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P36021

- MOT8_HUMAN

UniProt

P36021 - MOT8_HUMAN

Protein

Monocarboxylate transporter 8

Gene

SLC16A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 2 (05 Sep 2006)
      Previous versions | rss
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    Functioni

    Very active and specific thyroid hormone transporter. Stimulates cellular uptake of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine. Does not transport Leu, Phe, Trp or Tyr By similarity.By similarity

    GO - Molecular functioni

    1. monocarboxylic acid transmembrane transporter activity Source: ProtInc
    2. symporter activity Source: UniProtKB-KW
    3. transporter activity Source: ProtInc

    GO - Biological processi

    1. monocarboxylic acid transport Source: ProtInc
    2. transport Source: ProtInc

    Keywords - Biological processi

    Symport, Transport

    Protein family/group databases

    TCDBi2.A.1.13.10. the major facilitator superfamily (mfs).

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Monocarboxylate transporter 8
    Short name:
    MCT 8
    Alternative name(s):
    Monocarboxylate transporter 7
    Short name:
    MCT 7
    Solute carrier family 16 member 2
    X-linked PEST-containing transporter
    Gene namesi
    Name:SLC16A2
    Synonyms:MCT8, XPCT
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:10923. SLC16A2.

    Subcellular locationi

    Cell membrane By similarity; Multi-pass membrane protein By similarity

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. membrane Source: ProtInc

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]: Consists of a severe form of X-linked psychomotor retardation combined with abnormal thyroid hormone (TH) levels. Thyroid hormone deficiency can be caused by defects of hormone synthesis and action, but it has also been linked to a defect in cellular hormone transport. Affected patients are males with abnormal relative concentrations of three circulating iodothyronines, as well as severe neurological abnormalities, including global developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus, and impaired gaze and hearing. Heterozygous females had a milder thyroid phenotype and no neurological defects.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti120 – 1201S → F in MCT8 deficiency. 1 Publication
    VAR_059054
    Natural varianti150 – 1501A → V in MCT8 deficiency. 2 Publications
    VAR_022348
    Natural varianti156 – 1561Missing in MCT8 deficiency. 1 Publication
    VAR_059055
    Natural varianti161 – 1611V → M in MCT8 deficiency. 1 Publication
    VAR_059056
    Natural varianti360 – 3601L → W in MCT8 deficiency. 1 Publication
    VAR_059057
    Natural varianti397 – 3971L → P in MCT8 deficiency. 1 Publication
    VAR_022349
    Natural varianti427 – 4271Missing in MCT8 deficiency. 1 Publication
    VAR_059058
    Natural varianti438 – 4381L → P in MCT8 deficiency. 1 Publication
    VAR_022350
    Natural varianti490 – 4901G → R in MCT8 deficiency. 1 Publication
    VAR_059059
    Natural varianti494 – 4941L → P in MCT8 deficiency. 1 Publication
    VAR_059060

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi118 – 1181H → A: Reduction of thyroid hormone (TH) transport. 1 Publication
    Mutagenesisi186 – 1861H → A: No effect on thyroid hormone (TH) transport. 1 Publication
    Mutagenesisi376 – 3761H → A: No effect on thyroid hormone (TH) transport. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi300523. phenotype.
    Orphaneti59. Allan-Herndon-Dudley syndrome.
    PharmGKBiPA35814.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed2 Publications
    Chaini2 – 539538Monocarboxylate transporter 8PRO_0000211401Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine2 Publications

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiP36021.
    PaxDbiP36021.
    PRIDEiP36021.

    PTM databases

    PhosphoSiteiP36021.

    Expressioni

    Tissue specificityi

    Highly expressed in liver and heart.

    Gene expression databases

    BgeeiP36021.
    CleanExiHS_SLC16A2.
    GenevestigatoriP36021.

    Organism-specific databases

    HPAiHPA003353.

    Interactioni

    Subunit structurei

    Homodimer.1 Publication

    Protein-protein interaction databases

    STRINGi9606.ENSP00000276033.

    Structurei

    3D structure databases

    ProteinModelPortaliP36021.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini2 – 9695CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini118 – 14326ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini165 – 1717CytoplasmicSequence Analysis
    Topological domaini193 – 2008ExtracellularSequence Analysis
    Topological domaini222 – 2298CytoplasmicSequence Analysis
    Topological domaini251 – 2588ExtracellularSequence Analysis
    Topological domaini280 – 32243CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini344 – 35613ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini378 – 3869CytoplasmicSequence Analysis
    Topological domaini408 – 4092ExtracellularSequence Analysis
    Topological domaini431 – 44717CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini469 – 4779ExtracellularSequence Analysis
    Topological domaini499 – 53941CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei97 – 11721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei144 – 16421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei172 – 19221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei201 – 22121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei230 – 25021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei259 – 27921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei323 – 34321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei357 – 37721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei387 – 40721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei410 – 43021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei448 – 46821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei478 – 49821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG321880.
    HOVERGENiHBG006387.
    InParanoidiP36021.
    KOiK08231.
    OrthoDBiEOG7KWSH8.
    PhylomeDBiP36021.
    TreeFamiTF313792.

    Family and domain databases

    InterProiIPR011701. MFS.
    IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    [Graphical view]
    PfamiPF07690. MFS_1. 1 hit.
    [Graphical view]
    SUPFAMiSSF103473. SSF103473. 1 hit.
    PROSITEiPS50850. MFS. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P36021-1 [UniParc]FASTAAdd to Basket

    « Hide

    MALQSQASEE AKGPWQEADQ EQQEPVGSPE PESEPEPEPE PEPVPVPPPE    50
    PQPEPQPLPD PAPLPELEFE SERVHEPEPT PTVETRGTAR GFQPPEGGFG 100
    WVVVFAATWC NGSIFGIHNS VGILYSMLLE EEKEKNRQVE FQAAWVGALA 150
    MGMIFFCSPI VSIFTDRLGC RITATAGAAV AFIGLHTSSF TSSLSLRYFT 200
    YGILFGCGCS FAFQPSLVIL GHYFQRRLGL ANGVVSAGSS IFSMSFPFLI 250
    RMLGDKIKLA QTFQVLSTFM FVLMLLSLTY RPLLPSSQDT PSKRGVRTLH 300
    QRFLAQLRKY FNMRVFRQRT YRIWAFGIAA AALGYFVPYV HLMKYVEEEF 350
    SEIKETWVLL VCIGATSGLG RLVSGHISDS IPGLKKIYLQ VLSFLLLGLM 400
    SMMIPLCRDF GGLIVVCLFL GLCDGFFITI MAPIAFELVG PMQASQAIGY 450
    LLGMMALPMI AGPPIAGLLR NCFGDYHVAF YFAGVPPIIG AVILFFVPLM 500
    HQRMFKKEQR DSSKDKMLAP DPDPNGELLP GSPNPEEPI 539
    Length:539
    Mass (Da):59,511
    Last modified:September 5, 2006 - v2
    Checksum:iE4DB873D59FA4DD6
    GO

    Sequence cautioni

    The sequence AAB60374.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence AAB60375.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti120 – 1201S → F in MCT8 deficiency. 1 Publication
    VAR_059054
    Natural varianti150 – 1501A → V in MCT8 deficiency. 2 Publications
    VAR_022348
    Natural varianti156 – 1561Missing in MCT8 deficiency. 1 Publication
    VAR_059055
    Natural varianti161 – 1611V → M in MCT8 deficiency. 1 Publication
    VAR_059056
    Natural varianti323 – 3231I → L.
    Corresponds to variant rs12849411 [ dbSNP | Ensembl ].
    VAR_057723
    Natural varianti360 – 3601L → W in MCT8 deficiency. 1 Publication
    VAR_059057
    Natural varianti397 – 3971L → P in MCT8 deficiency. 1 Publication
    VAR_022349
    Natural varianti427 – 4271Missing in MCT8 deficiency. 1 Publication
    VAR_059058
    Natural varianti438 – 4381L → P in MCT8 deficiency. 1 Publication
    VAR_022350
    Natural varianti490 – 4901G → R in MCT8 deficiency. 1 Publication
    VAR_059059
    Natural varianti494 – 4941L → P in MCT8 deficiency. 1 Publication
    VAR_059060

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U05321
    , U05316, U05317, U05318, U05319, U05320 Genomic DNA. Translation: AAB60375.1. Sequence problems.
    U05315 mRNA. Translation: AAB60374.1. Different initiation.
    AB085789 mRNA. Translation: BAC76827.1.
    AC004073 Genomic DNA. No translation available.
    AL157934 Genomic DNA. No translation available.
    CCDSiCCDS14426.2.
    PIRiI39295.
    RefSeqiNP_006508.2. NM_006517.4.
    UniGeneiHs.75317.

    Genome annotation databases

    EnsembliENST00000587091; ENSP00000465734; ENSG00000147100.
    GeneIDi6567.
    KEGGihsa:6567.
    UCSCiuc031tjy.1. human.

    Polymorphism databases

    DMDMi114152841.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U05321
    , U05316 , U05317 , U05318 , U05319 , U05320 Genomic DNA. Translation: AAB60375.1 . Sequence problems.
    U05315 mRNA. Translation: AAB60374.1 . Different initiation.
    AB085789 mRNA. Translation: BAC76827.1 .
    AC004073 Genomic DNA. No translation available.
    AL157934 Genomic DNA. No translation available.
    CCDSi CCDS14426.2.
    PIRi I39295.
    RefSeqi NP_006508.2. NM_006517.4.
    UniGenei Hs.75317.

    3D structure databases

    ProteinModelPortali P36021.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000276033.

    Chemistry

    DrugBanki DB00119. Pyruvic acid.

    Protein family/group databases

    TCDBi 2.A.1.13.10. the major facilitator superfamily (mfs).

    PTM databases

    PhosphoSitei P36021.

    Polymorphism databases

    DMDMi 114152841.

    Proteomic databases

    MaxQBi P36021.
    PaxDbi P36021.
    PRIDEi P36021.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000587091 ; ENSP00000465734 ; ENSG00000147100 .
    GeneIDi 6567.
    KEGGi hsa:6567.
    UCSCi uc031tjy.1. human.

    Organism-specific databases

    CTDi 6567.
    GeneCardsi GC0XP073640.
    GeneReviewsi SLC16A2.
    H-InvDB HIX0056105.
    HGNCi HGNC:10923. SLC16A2.
    HPAi HPA003353.
    MIMi 300095. gene.
    300523. phenotype.
    neXtProti NX_P36021.
    Orphaneti 59. Allan-Herndon-Dudley syndrome.
    PharmGKBi PA35814.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG321880.
    HOVERGENi HBG006387.
    InParanoidi P36021.
    KOi K08231.
    OrthoDBi EOG7KWSH8.
    PhylomeDBi P36021.
    TreeFami TF313792.

    Miscellaneous databases

    ChiTaRSi SLC16A2. human.
    GeneWikii SLC16A2.
    GenomeRNAii 6567.
    NextBioi 25551.
    PROi P36021.
    SOURCEi Search...

    Gene expression databases

    Bgeei P36021.
    CleanExi HS_SLC16A2.
    Genevestigatori P36021.

    Family and domain databases

    InterProi IPR011701. MFS.
    IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    [Graphical view ]
    Pfami PF07690. MFS_1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF103473. SSF103473. 1 hit.
    PROSITEi PS50850. MFS. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel transmembrane transporter encoded by the XPCT gene in Xq13.2."
      Lafreniere R.G., Carrel L., Willard H.F.
      Hum. Mol. Genet. 3:1133-1140(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    2. "X-linked PEST-containing transporter (XPCT) identified in the X-chromosome inactivation center is an acidic amino acid transporter which requires CD147 for its functional expression."
      Kim D., Kanai Y., Choi H., Shin H., Kim J., Teraoka H., Shigeta Y., Chairoungdua A., Babu E., Anzai N., Iribe Y., Endou H.
      Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    5. Cited for: SUBUNIT.
    6. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
      Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
      Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. "Importance of His192 in the human thyroid hormone transporter MCT8 for substrate recognition."
      Groeneweg S., Lima de Souza E.C., Visser W.E., Peeters R.P., Visser T.J.
      Endocrinology 154:2525-2532(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, MUTAGENESIS OF HIS-118; HIS-186 AND HIS-376.
    8. "Mutations in a thyroid hormone transporter in patients with severe psychomotor retardation and high serum T3 levels."
      Friesema E., Grueters A., Halestrap A., Reeser M., Visser T.
      Thyroid 13:672-672(2003)
      Cited for: VARIANT MCT8 DEFICIENCY VAL-150.
    9. "A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene."
      Dumitrescu A.M., Liao X.-H., Best T.B., Brockmann K., Refetoff S.
      Am. J. Hum. Genet. 74:168-175(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MCT8 DEFICIENCY PRO-438.
    10. Erratum
      Dumitrescu A.M., Liao X.-H., Best T.B., Brockmann K., Refetoff S.
      Am. J. Hum. Genet. 74:598-598(2004)
    11. Cited for: IDENTIFICATION OF START CODON.
    12. Cited for: VARIANTS MCT8 DEFICIENCY VAL-150 AND PRO-397.
    13. Cited for: VARIANTS MCT8 DEFICIENCY PHE-120; PHE-156 DEL; MET-161; TRP-360 AND PRO-494.
    14. Cited for: VARIANTS MCT8 DEFICIENCY PHE-427 DEL AND ARG-490, POSSIBLE PATHOGENIC MECHANISM OF BRAIN DEVELOPMENT.

    Entry informationi

    Entry nameiMOT8_HUMAN
    AccessioniPrimary (citable) accession number: P36021
    Secondary accession number(s): Q7Z797
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: September 5, 2006
    Last modified: October 1, 2014
    This is version 113 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    Abnormal brain development associated with MCT8 deficiency may be the consequence of either decreased or increased intracellular T3 concentrations.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3