Peripheral myelin protein 22

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• motor activity Source: MGI <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo."
    Lee J.S., Chang E.H., Koo O.J., Jwa D.H., Mo W.M., Kwak G., Moon H.W., Park H.T., Hong Y.B., Choi B.O.
    Neurobiol Dis 100:99-107(2017) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• actin cytoskeleton organization Source: MGIInferred from mutant phenotypeⁱ
  • "PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts."
    Lee S., Amici S., Tavori H., Zeng W.M., Freeland S., Fazio S., Notterpek L.
    J Neurosci 34:16140-16152(2014) [PubMed] [Europe PMC] [Abstract]
  • "Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP."
    Hu B., Arpag S., Zhang X., Mobius W., Werner H., Sosinsky G., Ellisman M., Zhang Y., Hamilton A., Chernoff J., Li J.
    PLoS Genet 12:e1006290-e1006290(2016) [PubMed] [Europe PMC] [Abstract]
• adult locomotory behavior Source: MGIInferred from mutant phenotypeⁱ
  • "Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy."
    Isaacs A.M., Jeans A., Oliver P.L., Vizor L., Brown S.D., Hunter A.J., Davies K.E.
    Mol Cell Neurosci 21:114-125(2002) [PubMed] [Europe PMC] [Abstract]
  • "Rapamycin improves peripheral nerve myelination while it fails to benefit neuromuscular performance in neuropathic mice."
    Nicks J., Lee S., Harris A., Falk D.J., Todd A.G., Arredondo K., Dunn W.A. Jr., Notterpek L.
    Neurobiol Dis 70:224-236(2014) [PubMed] [Europe PMC] [Abstract]
• adult walking behavior Source: MGIInferred from mutant phenotypeⁱ
  • "Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy."
    Isaacs A.M., Jeans A., Oliver P.L., Vizor L., Brown S.D., Hunter A.J., Davies K.E.
    Mol Cell Neurosci 21:114-125(2002) [PubMed] [Europe PMC] [Abstract]
• aggresome assembly Source: MGIInferred from mutant phenotypeⁱ
  • "Impaired proteasome activity and accumulation of ubiquitinated substrates in a hereditary neuropathy model."
    Fortun J., Li J., Go J., Fenstermaker A., Fletcher B.S., Notterpek L.
    J Neurochem 92:1531-1541(2005) [PubMed] [Europe PMC] [Abstract]
• autophagy Source: MGIInferred from mutant phenotypeⁱ
  • "Emerging role for autophagy in the removal of aggresomes in Schwann cells."
    Fortun J., Dunn W.A. Jr., Joy S., Li J., Notterpek L.
    J Neurosci 23:10672-10680(2003) [PubMed] [Europe PMC] [Abstract]
  • "The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones."
    Fortun J., Verrier J.D., Go J.C., Madorsky I., Dunn W.A., Notterpek L.
    Neurobiol Dis 25:252-265(2007) [PubMed] [Europe PMC] [Abstract]
  • "Rapamycin improves peripheral nerve myelination while it fails to benefit neuromuscular performance in neuropathic mice."
    Nicks J., Lee S., Harris A., Falk D.J., Todd A.G., Arredondo K., Dunn W.A. Jr., Notterpek L.
    Neurobiol Dis 70:224-236(2014) [PubMed] [Europe PMC] [Abstract]
• axon development Source: MGIInferred from mutant phenotypeⁱ
  • "Conduction block in PMP22 deficiency."
    Bai Y., Zhang X., Katona I., Saporta M.A., Shy M.E., O'Malley H.A., Isom L.L., Suter U., Li J.
    J Neurosci 30:600-608(2010) [PubMed] [Europe PMC] [Abstract]
• basement membrane organization Source: MGIInferred from mutant phenotypeⁱ
  • "Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina."
    Amici S.A., Dunn W.A. Jr., Murphy A.J., Adams N.C., Gale N.W., Valenzuela D.M., Yancopoulos G.D., Notterpek L.
    J Neurosci 26:1179-1189(2006) [PubMed] [Europe PMC] [Abstract]
• bleb assembly Source: MGI
• cell adhesion Source: MGIInferred from mutant phenotypeⁱ
  • "PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts."
    Lee S., Amici S., Tavori H., Zeng W.M., Freeland S., Fazio S., Notterpek L.
    J Neurosci 34:16140-16152(2014) [PubMed] [Europe PMC] [Abstract]
• cell cycle arrest Source: UniProtKB-KW
• cell death Source: MGI
• cell differentiation Source: MGI
• cellular lipid metabolic process Source: MGIInferred from mutant phenotypeⁱ
  • "Aging of myelinating glial cells predominantly affects lipid metabolism and immune response pathways."
    Verdier V., Csardi G., de Preux-Charles A.S., Medard J.J., Smit A.B., Verheijen M.H., Bergmann S., Chrast R.
    Glia 60:751-760(2012) [PubMed] [Europe PMC] [Abstract]
• cellular localization Source: MGIInferred from mutant phenotypeⁱ
  • "Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA."
    Devaux J.J., Scherer S.S.
    J Neurosci 25:1470-1480(2005) [PubMed] [Europe PMC] [Abstract]
• cellular response to heat Source: MGIInferred from mutant phenotypeⁱ
  • "Curcumin facilitates a transitory cellular stress response in Trembler-J mice."
    Okamoto Y., Pehlivan D., Wiszniewski W., Beck C.R., Snipes G.J., Lupski J.R., Khajavi M.
    Hum Mol Genet 22:4698-4705(2013) [PubMed] [Europe PMC] [Abstract]
• cellular response to unfolded protein Source: MGIInferred from mutant phenotypeⁱ
  • "Curcumin facilitates a transitory cellular stress response in Trembler-J mice."
    Okamoto Y., Pehlivan D., Wiszniewski W., Beck C.R., Snipes G.J., Lupski J.R., Khajavi M.
    Hum Mol Genet 22:4698-4705(2013) [PubMed] [Europe PMC] [Abstract]
• cholesterol metabolic process Source: MGIInferred from mutant phenotypeⁱ
  • "PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts."
    Lee S., Amici S., Tavori H., Zeng W.M., Freeland S., Fazio S., Notterpek L.
    J Neurosci 34:16140-16152(2014) [PubMed] [Europe PMC] [Abstract]
• fibroblast migration Source: MGIInferred from mutant phenotypeⁱ
  • "PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts."
    Lee S., Amici S., Tavori H., Zeng W.M., Freeland S., Fazio S., Notterpek L.
    J Neurosci 34:16140-16152(2014) [PubMed] [Europe PMC] [Abstract]
• gliogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Emerging role for autophagy in the removal of aggresomes in Schwann cells."
    Fortun J., Dunn W.A. Jr., Joy S., Li J., Notterpek L.
    J Neurosci 23:10672-10680(2003) [PubMed] [Europe PMC] [Abstract]
• immune response Source: MGIInferred from mutant phenotypeⁱ
  • "Aging of myelinating glial cells predominantly affects lipid metabolism and immune response pathways."
    Verdier V., Csardi G., de Preux-Charles A.S., Medard J.J., Smit A.B., Verheijen M.H., Bergmann S., Chrast R.
    Glia 60:751-760(2012) [PubMed] [Europe PMC] [Abstract]
• lamellipodium assembly Source: MGIInferred from mutant phenotypeⁱ
  • "PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts."
    Lee S., Amici S., Tavori H., Zeng W.M., Freeland S., Fazio S., Notterpek L.
    J Neurosci 34:16140-16152(2014) [PubMed] [Europe PMC] [Abstract]
• mating Source: MGIInferred from mutant phenotypeⁱ
  • "Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina."
    Amici S.A., Dunn W.A. Jr., Murphy A.J., Adams N.C., Gale N.W., Valenzuela D.M., Yancopoulos G.D., Notterpek L.
    J Neurosci 26:1179-1189(2006) [PubMed] [Europe PMC] [Abstract]
• membrane raft organization Source: MGIInferred from mutant phenotypeⁱ
  • "Tissue expression patterns identify mouse cilia genes."
    McClintock T.S., Glasser C.E., Bose S.C., Bergman D.A.
    Physiol. Genomics 32:198-206(2008) [PubMed] [Europe PMC] [Abstract]
• motor behavior Source: MGIInferred from mutant phenotypeⁱ
  • "Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy."
    Isaacs A.M., Jeans A., Oliver P.L., Vizor L., Brown S.D., Hunter A.J., Davies K.E.
    Mol Cell Neurosci 21:114-125(2002) [PubMed] [Europe PMC] [Abstract]
  • "Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina."
    Amici S.A., Dunn W.A. Jr., Murphy A.J., Adams N.C., Gale N.W., Valenzuela D.M., Yancopoulos G.D., Notterpek L.
    J Neurosci 26:1179-1189(2006) [PubMed] [Europe PMC] [Abstract]
• multicellular organism aging Source: MGIInferred from mutant phenotypeⁱ
  • "Aging of myelinating glial cells predominantly affects lipid metabolism and immune response pathways."
    Verdier V., Csardi G., de Preux-Charles A.S., Medard J.J., Smit A.B., Verheijen M.H., Bergmann S., Chrast R.
    Glia 60:751-760(2012) [PubMed] [Europe PMC] [Abstract]
• multicellular organism growth Source: MGIInferred from mutant phenotypeⁱ
  • "Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina."
    Amici S.A., Dunn W.A. Jr., Murphy A.J., Adams N.C., Gale N.W., Valenzuela D.M., Yancopoulos G.D., Notterpek L.
    J Neurosci 26:1179-1189(2006) [PubMed] [Europe PMC] [Abstract]
• muscle fiber development Source: MGIInferred from mutant phenotypeⁱ
  • "Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo."
    Lee J.S., Chang E.H., Koo O.J., Jwa D.H., Mo W.M., Kwak G., Moon H.W., Park H.T., Hong Y.B., Choi B.O.
    Neurobiol Dis 100:99-107(2017) [PubMed] [Europe PMC] [Abstract]
• myelin assembly Source: MGIInferred from mutant phenotypeⁱ
  • "Identification and functional characterization of mouse TPO1 as a myelin membrane protein."
    Fukazawa N., Ayukawa K., Nishikawa K., Ohashi H., Ichihara N., Hikawa Y., Abe T., Kudo Y., Kiyama H., Wada K., Aoki S.
    Brain Res 1070:1-14(2006) [PubMed] [Europe PMC] [Abstract]
  • "Conduction block in PMP22 deficiency."
    Bai Y., Zhang X., Katona I., Saporta M.A., Shy M.E., O'Malley H.A., Isom L.L., Suter U., Li J.
    J Neurosci 30:600-608(2010) [PubMed] [Europe PMC] [Abstract]
  • "CNS/PNS boundary transgression by central glia in the absence of Schwann cells or Krox20/Egr2 function."
    Coulpier F., Decker L., Funalot B., Vallat J.M., Garcia-Bragado F., Charnay P., Topilko P.
    J Neurosci 30:5958-5967(2010) [PubMed] [Europe PMC] [Abstract]
  • "Label-free imaging of Schwann cell myelination by third harmonic generation microscopy."
    Lim H., Sharoukhov D., Kassim I., Zhang Y., Salzer J.L., Melendez-Vasquez C.V.
    Proc Natl Acad Sci U S A 111:18025-18030(2014) [PubMed] [Europe PMC] [Abstract]
  • "Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP."
    Hu B., Arpag S., Zhang X., Mobius W., Werner H., Sosinsky G., Ellisman M., Zhang Y., Hamilton A., Chernoff J., Li J.
    PLoS Genet 12:e1006290-e1006290(2016) [PubMed] [Europe PMC] [Abstract]
• myelination Source: MGIInferred from mutant phenotypeⁱ
  • "Bex1 is involved in the regeneration of axons after injury."
    Khazaei M.R., Halfter H., Karimzadeh F., Koo J.H., Margolis F.L., Young P.
    J Neurochem 115:910-920(2010) [PubMed] [Europe PMC] [Abstract]
  • "Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo."
    Lee J.S., Chang E.H., Koo O.J., Jwa D.H., Mo W.M., Kwak G., Moon H.W., Park H.T., Hong Y.B., Choi B.O.
    Neurobiol Dis 100:99-107(2017) [PubMed] [Europe PMC] [Abstract]
• myelination in peripheral nervous system Source: MGIInferred from mutant phenotypeⁱ
  • "Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy."
    Isaacs A.M., Jeans A., Oliver P.L., Vizor L., Brown S.D., Hunter A.J., Davies K.E.
    Mol Cell Neurosci 21:114-125(2002) [PubMed] [Europe PMC] [Abstract]
  • "Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina."
    Amici S.A., Dunn W.A. Jr., Murphy A.J., Adams N.C., Gale N.W., Valenzuela D.M., Yancopoulos G.D., Notterpek L.
    J Neurosci 26:1179-1189(2006) [PubMed] [Europe PMC] [Abstract]
  • "TrkB and TrkC agonist antibodies improve function, electrophysiologic and pathologic features in Trembler J mice."
    Sahenk Z., Galloway G., Edwards C., Malik V., Kaspar B.K., Eagle A., Yetter B., Forgie A., Tsao D., Lin J.C.
    Exp Neurol 224:495-506(2010) [PubMed] [Europe PMC] [Abstract]
  • "Aging of myelinating glial cells predominantly affects lipid metabolism and immune response pathways."
    Verdier V., Csardi G., de Preux-Charles A.S., Medard J.J., Smit A.B., Verheijen M.H., Bergmann S., Chrast R.
    Glia 60:751-760(2012) [PubMed] [Europe PMC] [Abstract]
  • "Rapamycin improves peripheral nerve myelination while it fails to benefit neuromuscular performance in neuropathic mice."
    Nicks J., Lee S., Harris A., Falk D.J., Todd A.G., Arredondo K., Dunn W.A. Jr., Notterpek L.
    Neurobiol Dis 70:224-236(2014) [PubMed] [Europe PMC] [Abstract]
  • "PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts."
    Lee S., Amici S., Tavori H., Zeng W.M., Freeland S., Fazio S., Notterpek L.
    J Neurosci 34:16140-16152(2014) [PubMed] [Europe PMC] [Abstract]
  • "Label-free imaging of Schwann cell myelination by third harmonic generation microscopy."
    Lim H., Sharoukhov D., Kassim I., Zhang Y., Salzer J.L., Melendez-Vasquez C.V.
    Proc Natl Acad Sci U S A 111:18025-18030(2014) [PubMed] [Europe PMC] [Abstract]
• negative regulation of cell population proliferation Source: MGI
• negative regulation of gene expression Source: MGIInferred from mutant phenotypeⁱ
  • "Curcumin facilitates a transitory cellular stress response in Trembler-J mice."
    Okamoto Y., Pehlivan D., Wiszniewski W., Beck C.R., Snipes G.J., Lupski J.R., Khajavi M.
    Hum Mol Genet 22:4698-4705(2013) [PubMed] [Europe PMC] [Abstract]
• negative regulation of neuron projection development Source: MGI
• neuromuscular junction development, skeletal muscle fiber Source: MGIInferred from mutant phenotypeⁱ
  • "Rapamycin improves peripheral nerve myelination while it fails to benefit neuromuscular performance in neuropathic mice."
    Nicks J., Lee S., Harris A., Falk D.J., Todd A.G., Arredondo K., Dunn W.A. Jr., Notterpek L.
    Neurobiol Dis 70:224-236(2014) [PubMed] [Europe PMC] [Abstract]
• neuromuscular process Source: MGIInferred from mutant phenotypeⁱ
  • "Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy."
    Isaacs A.M., Jeans A., Oliver P.L., Vizor L., Brown S.D., Hunter A.J., Davies K.E.
    Mol Cell Neurosci 21:114-125(2002) [PubMed] [Europe PMC] [Abstract]
• neuronal action potential Source: MGIInferred from mutant phenotypeⁱ
  • "Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP."
    Hu B., Arpag S., Zhang X., Mobius W., Werner H., Sosinsky G., Ellisman M., Zhang Y., Hamilton A., Chernoff J., Li J.
    PLoS Genet 12:e1006290-e1006290(2016) [PubMed] [Europe PMC] [Abstract]
• neuronal action potential propagation Source: MGIInferred from mutant phenotypeⁱ
  • "Conduction block in PMP22 deficiency."
    Bai Y., Zhang X., Katona I., Saporta M.A., Shy M.E., O'Malley H.A., Isom L.L., Suter U., Li J.
    J Neurosci 30:600-608(2010) [PubMed] [Europe PMC] [Abstract]
• neuronal ion channel clustering Source: MGIInferred from mutant phenotypeⁱ
  • "Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA."
    Devaux J.J., Scherer S.S.
    J Neurosci 25:1470-1480(2005) [PubMed] [Europe PMC] [Abstract]
• paranodal junction assembly Source: MGIInferred from mutant phenotypeⁱ
  • "Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina."
    Amici S.A., Dunn W.A. Jr., Murphy A.J., Adams N.C., Gale N.W., Valenzuela D.M., Yancopoulos G.D., Notterpek L.
    J Neurosci 26:1179-1189(2006) [PubMed] [Europe PMC] [Abstract]
• peripheral nervous system development Source: MGIInferred from mutant phenotypeⁱ
  • "Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina."
    Amici S.A., Dunn W.A. Jr., Murphy A.J., Adams N.C., Gale N.W., Valenzuela D.M., Yancopoulos G.D., Notterpek L.
    J Neurosci 26:1179-1189(2006) [PubMed] [Europe PMC] [Abstract]
  • "An analysis of mast cell frequency in the rodent nervous system: numbers vary between different strains and can be reconstituted in mast cell-deficient mice."
    Johnson D., Yasui D., Seeldrayers P.
    J Neuropathol Exp Neurol 50:227-234(1991) [PubMed] [Europe PMC] [Abstract]
  • "Aging of myelinating glial cells predominantly affects lipid metabolism and immune response pathways."
    Verdier V., Csardi G., de Preux-Charles A.S., Medard J.J., Smit A.B., Verheijen M.H., Bergmann S., Chrast R.
    Glia 60:751-760(2012) [PubMed] [Europe PMC] [Abstract]
• peripheral nervous system neuron axonogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy."
    Isaacs A.M., Jeans A., Oliver P.L., Vizor L., Brown S.D., Hunter A.J., Davies K.E.
    Mol Cell Neurosci 21:114-125(2002) [PubMed] [Europe PMC] [Abstract]
  • "Rapamycin improves peripheral nerve myelination while it fails to benefit neuromuscular performance in neuropathic mice."
    Nicks J., Lee S., Harris A., Falk D.J., Todd A.G., Arredondo K., Dunn W.A. Jr., Notterpek L.
    Neurobiol Dis 70:224-236(2014) [PubMed] [Europe PMC] [Abstract]
• positive regulation of gene expression Source: MGIInferred from mutant phenotypeⁱ
  • "Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina."
    Amici S.A., Dunn W.A. Jr., Murphy A.J., Adams N.C., Gale N.W., Valenzuela D.M., Yancopoulos G.D., Notterpek L.
    J Neurosci 26:1179-1189(2006) [PubMed] [Europe PMC] [Abstract]
• proteasomal protein catabolic process Source: MGIInferred from mutant phenotypeⁱ
  • "Emerging role for autophagy in the removal of aggresomes in Schwann cells."
    Fortun J., Dunn W.A. Jr., Joy S., Li J., Notterpek L.
    J Neurosci 23:10672-10680(2003) [PubMed] [Europe PMC] [Abstract]
• proteasome-mediated ubiquitin-dependent protein catabolic process Source: MGIInferred from mutant phenotypeⁱ
  • "Impaired proteasome activity and accumulation of ubiquitinated substrates in a hereditary neuropathy model."
    Fortun J., Li J., Go J., Fenstermaker A., Fletcher B.S., Notterpek L.
    J Neurochem 92:1531-1541(2005) [PubMed] [Europe PMC] [Abstract]
• regulation of apoptotic signaling pathway Source: MGIInferred from mutant phenotypeⁱ
  • "Curcumin facilitates a transitory cellular stress response in Trembler-J mice."
    Okamoto Y., Pehlivan D., Wiszniewski W., Beck C.R., Snipes G.J., Lupski J.R., Khajavi M.
    Hum Mol Genet 22:4698-4705(2013) [PubMed] [Europe PMC] [Abstract]
• regulation of gene expression Source: MGIInferred from mutant phenotypeⁱ
  • "PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts."
    Lee S., Amici S., Tavori H., Zeng W.M., Freeland S., Fazio S., Notterpek L.
    J Neurosci 34:16140-16152(2014) [PubMed] [Europe PMC] [Abstract]
  • "Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo."
    Lee J.S., Chang E.H., Koo O.J., Jwa D.H., Mo W.M., Kwak G., Moon H.W., Park H.T., Hong Y.B., Choi B.O.
    Neurobiol Dis 100:99-107(2017) [PubMed] [Europe PMC] [Abstract]
• regulation of glial cell apoptotic process Source: MGIInferred from mutant phenotypeⁱ
  • "Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A."
    Sancho S., Young P., Suter U.
    Brain 124:2177-2187(2001) [PubMed] [Europe PMC] [Abstract]
• regulation of inflammatory response Source: MGIInferred from mutant phenotypeⁱ
  • "Curcumin facilitates a transitory cellular stress response in Trembler-J mice."
    Okamoto Y., Pehlivan D., Wiszniewski W., Beck C.R., Snipes G.J., Lupski J.R., Khajavi M.
    Hum Mol Genet 22:4698-4705(2013) [PubMed] [Europe PMC] [Abstract]
• regulation of protein serine/threonine kinase activity Source: MGIInferred from mutant phenotypeⁱ
  • "Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP."
    Hu B., Arpag S., Zhang X., Mobius W., Werner H., Sosinsky G., Ellisman M., Zhang Y., Hamilton A., Chernoff J., Li J.
    PLoS Genet 12:e1006290-e1006290(2016) [PubMed] [Europe PMC] [Abstract]
• regulation of Schwann cell proliferation Source: MGIInferred from mutant phenotypeⁱ
  • "Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A."
    Sancho S., Young P., Suter U.
    Brain 124:2177-2187(2001) [PubMed] [Europe PMC] [Abstract]
• response to bacterium Source: MGI <p>Inferred from Expression Pattern</p> <p>Covers cases where the annotation is inferred from the timing or location of expression of a gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iep">GO evidence code guide</a></p> Inferred from expression patternⁱ
  • "Impact of lactobacilli on orally acquired listeriosis."
    Archambaud C., Nahori M.A., Soubigou G., Becavin C., Laval L., Lechat P., Smokvina T., Langella P., Lecuit M., Cossart P.
    Proc Natl Acad Sci U S A 109:16684-16689(2012) [PubMed] [Europe PMC] [Abstract]
• response to endoplasmic reticulum stress Source: MGIInferred from mutant phenotypeⁱ
  • "Curcumin facilitates a transitory cellular stress response in Trembler-J mice."
    Okamoto Y., Pehlivan D., Wiszniewski W., Beck C.R., Snipes G.J., Lupski J.R., Khajavi M.
    Hum Mol Genet 22:4698-4705(2013) [PubMed] [Europe PMC] [Abstract]
• Schwann cell development Source: MGIInferred from mutant phenotypeⁱ
  • "PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts."
    Lee S., Amici S., Tavori H., Zeng W.M., Freeland S., Fazio S., Notterpek L.
    J Neurosci 34:16140-16152(2014) [PubMed] [Europe PMC] [Abstract]
• Schwann cell differentiation Source: MGIInferred from mutant phenotypeⁱ
  • "Emerging role for autophagy in the removal of aggresomes in Schwann cells."
    Fortun J., Dunn W.A. Jr., Joy S., Li J., Notterpek L.
    J Neurosci 23:10672-10680(2003) [PubMed] [Europe PMC] [Abstract]
  • "Impaired proteasome activity and accumulation of ubiquitinated substrates in a hereditary neuropathy model."
    Fortun J., Li J., Go J., Fenstermaker A., Fletcher B.S., Notterpek L.
    J Neurochem 92:1531-1541(2005) [PubMed] [Europe PMC] [Abstract]
  • "Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A."
    Fledrich R., Stassart R.M., Klink A., Rasch L.M., Prukop T., Haag L., Czesnik D., Kungl T., Abdelaal T.A., Keric N., Stadelmann C., Bruck W., Nave K.A., Sereda M.W.
    Nat Med 20:1055-1061(2014) [PubMed] [Europe PMC] [Abstract]
  • "Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo."
    Lee J.S., Chang E.H., Koo O.J., Jwa D.H., Mo W.M., Kwak G., Moon H.W., Park H.T., Hong Y.B., Choi B.O.
    Neurobiol Dis 100:99-107(2017) [PubMed] [Europe PMC] [Abstract]
• Schwann cell migration Source: MGIInferred from mutant phenotypeⁱ
  • "PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts."
    Lee S., Amici S., Tavori H., Zeng W.M., Freeland S., Fazio S., Notterpek L.
    J Neurosci 34:16140-16152(2014) [PubMed] [Europe PMC] [Abstract]
• striated muscle cell differentiation Source: MGIInferred from mutant phenotypeⁱ
  • "Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina."
    Amici S.A., Dunn W.A. Jr., Murphy A.J., Adams N.C., Gale N.W., Valenzuela D.M., Yancopoulos G.D., Notterpek L.
    J Neurosci 26:1179-1189(2006) [PubMed] [Europe PMC] [Abstract]
• transmission of nerve impulse Source: MGIInferred from mutant phenotypeⁱ
  • "Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A?"
    Meekins G.D., Emery M.J., Weiss M.D.
    J Peripher Nerv Syst 9:177-182(2004) [PubMed] [Europe PMC] [Abstract]
  • "Conduction block in PMP22 deficiency."
    Bai Y., Zhang X., Katona I., Saporta M.A., Shy M.E., O'Malley H.A., Isom L.L., Suter U., Li J.
    J Neurosci 30:600-608(2010) [PubMed] [Europe PMC] [Abstract]
  • "Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo."
    Lee J.S., Chang E.H., Koo O.J., Jwa D.H., Mo W.M., Kwak G., Moon H.W., Park H.T., Hong Y.B., Choi B.O.
    Neurobiol Dis 100:99-107(2017) [PubMed] [Europe PMC] [Abstract]
• vestibular reflex Source: MGIInferred from mutant phenotypeⁱ
  • "Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy."
    Isaacs A.M., Jeans A., Oliver P.L., Vizor L., Brown S.D., Hunter A.J., Davies K.E.
    Mol Cell Neurosci 21:114-125(2002) [PubMed] [Europe PMC] [Abstract]

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

Topology

Keywords - Cellular componentⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

Keywords - Diseaseⁱ

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Amino acid modifications

Keywords - PTMⁱ

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stageⁱ

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)ⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

        10         20         30         40         50
MLLLLLGILF LHIAVLVLLF VSTIVSQWLV GNGHTTDLWQ NCTTSALGAV 
        60         70         80         90        100
QHCYSSSVSE WLQSVQATMI LSVIFSVLAL FLFFCQLFTL TKGGRFYITG 
       110        120        130        140        150
FFQILAGLCV MSAAAIYTVR HSEWHVNTDY SYGFAYILAW VAFPLALLSG 
       160 
IIYVILRKRE L                                           

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 100% Identity
• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. MGD cross-references
   Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
2. SIMILARITY comments
   Index of protein domains and families