Reviewed, UniProtKB/Swiss-Prot Q06481 (APLP2_HUMAN)

Names and origin

Protein names

Recommended name:
    Amyloid-like protein 2
Alternative name(s):
    Amyloid protein homolog
    APPH
    CDEI box-binding protein
      Short name=CDEBP

Gene names

Name:	APLP2
Synonyms:	APPL2

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	763 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May play a role in the regulation of hemostasis. The soluble form may have inhibitory properties towards coagulation factors. May interact with cellular G-protein signaling pathways. May bind to the DNA 5'-GTCACATG-3'(CDEI box). Inhibits trypsin, chymotrypsin, plasmin, factor XIA and plasma and glandular kallikrein. Ref.7
Subunit structure	Interacts with CPEB1 By similarity.
Subcellular location	Cell membrane; Single-pass type I membrane protein Potential. Nucleus Potential.
Tissue specificity	In placenta, brain, heart, lung, liver, kidney and endothelial tissues.
Post-translational modification	The BPTI/Kunitz inhibitor domain is O-glycosylated. Ref.7
Sequence similarities	Belongs to the APP family. Contains 1 BPTI/Kunitz inhibitor domain.

Ontologies

Keywords
Cellular component	Cell membrane Membrane Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal Transmembrane
Ligand	DNA-binding
Molecular function	Protease inhibitor Serine protease inhibitor
PTM	Disulfide bond Glycoprotein Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	G-protein coupled receptor protein signaling pathway Ref.2 Non-traceable author statement. Source: UniProtKB
Cellular component	integral to membrane Ref.1 Non-traceable author statement. Source: UniProtKB nucleus Ref.3 Inferred from direct assay. Source: UniProtKB plasma membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	DNA binding Ref.3 Non-traceable author statement. Source: UniProtKB identical protein binding Inferred from physical interaction. Source: IntAct serine-type endopeptidase inhibitor activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
itself		2	EBI-79306,EBI-79306
APBB2	Q92870	1	EBI-79306,EBI-79277
APLP1	P51693	1	EBI-79306,EBI-74648
APP	P05067-4	1	EBI-79306,EBI-302641
Slc5a7	Q8BGY9	1	EBI-79306,EBI-2010752	From a different organism.
SPON1	Q9HCB6	1	EBI-79306,EBI-2431846

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q06481-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q06481-2)

The sequence of this isoform differs from the canonical sequence as follows:
     308-363: Missing.

Isoform 3 (identifier: Q06481-3)

The sequence of this isoform differs from the canonical sequence as follows:
     613-624: Missing.

Isoform 4 (identifier: Q06481-4)

The sequence of this isoform differs from the canonical sequence as follows:
     308-363: Missing.
     613-624: Missing.

Isoform 5 (identifier: Q06481-5)

The sequence of this isoform differs from the canonical sequence as follows:
     136-364: Missing.
     613-624: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 29	29	Potential
	Chain	30 – 763	734	Amyloid-like protein 2		PRO_0000000207
Regions
	Topological domain	30 – 692	663	Extracellular Potential
	Transmembrane	693 – 716	24	Potential
	Topological domain	717 – 763	47	Cytoplasmic Potential
	Domain	306 – 364	59	BPTI/Kunitz inhibitor
	Compositional bias	215 – 280	66	Asp/Glu-rich (highly acidic)
	Compositional bias	215 – 231	17	Poly-Glu
Sites
	Site	320 – 321	2	Reactive bond By similarity
Amino acid modifications
	Modified residue	750	1	Phosphotyrosine Ref.8 Ref.9
	Modified residue	755	1	Phosphotyrosine Ref.8
	Disulfide bond	310 ↔ 360		By similarity
	Disulfide bond	319 ↔ 343		By similarity
	Disulfide bond	335 ↔ 356		By similarity
Natural variations
	Alternative sequence	136 – 364	229	Missing in isoform 5.		VSP_030921
	Alternative sequence	308 – 363	56	Missing in isoform 2 and isoform 4.		VSP_000018
	Alternative sequence	613 – 624	12	Missing in isoform 3, isoform 4 and isoform 5.		VSP_000019
	Natural variant	632	1	D → N: dbSNP rs3740881.		VAR_022039
Experimental info
	Sequence conflict	224	1	E → D in AAD47291. Ref.5
	Sequence conflict	364	1	I → V in AAA35601. Ref.4
	Sequence conflict	364	1	I → V in AAA36130. Ref.4
	Sequence conflict	543	1	S → I in AAA35526. Ref.1
	Sequence conflict	543	1	S → T in AAH04371. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 1996. Version 2. Checksum: CA3A7D6DDB8A28D0	FASTA	763	86,956
	10 20 30 40 50 60 MAATGTAAAA ATGRLLLLLL VGLTAPALAL AGYIEALAAN AGTGFAVAEP QIAMFCGKLN 70 80 90 100 110 120 MHVNIQTGKW EPDPTGTKSC FETKEEVLQY CQEMYPELQI TNVMEANQRV SIDNWCRRDK 130 140 150 160 170 180 KQCKSRFVTP FKCLVGEFVS DVLLVPEKCQ FFHKERMEVC ENHQHWHTVV KEACLTQGMT 190 200 210 220 230 240 LYSYGMLLPC GVDQFHGTEY VCCPQTKIIG SVSKEEEEED EEEEEEEDEE EDYDVYKSEF 250 260 270 280 290 300 PTEADLEDFT EAAVDEDDED EEEGEEVVED RDYYYDTFKG DDYNEENPTE PGSDGTMSDK 310 320 330 340 350 360 EITHDVKAVC SQEAMTGPCR AVMPRWYFDL SKGKCVRFIY GGCGGNRNNF ESEDYCMAVC 370 380 390 400 410 420 KAMIPPTPLP TNDVDVYFET SADDNEHARF QKAKEQLEIR HRNRMDRVKK EWEEAELQAK 430 440 450 460 470 480 NLPKAERQTL IQHFQAMVKA LEKEAASEKQ QLVETHLARV EAMLNDRRRM ALENYLAALQ 490 500 510 520 530 540 SDPPRPHRIL QALRRYVRAE NKDRLHTIRH YQHVLAVDPE KAAQMKSQVM THLHVIEERR 550 560 570 580 590 600 NQSLSLLYKV PYVAQEIQEE IDELLQEQRA DMDQFTASIS ETPVDVRVSS EESEEIPPFH 610 620 630 640 650 660 PFHPFPALPE NEDTQPELYH PMKKGSGVGE QDGGLIGAEE KVINSKNKVD ENMVIDETLD 670 680 690 700 710 720 VKEMIFNAER VGGLEEERES VGPLREDFSL SSSALIGLLV IAVAIATVIV ISLVMLRKRQ 730 740 750 760 YGTISHGIVE VDPMLTPEER HLNKMQNHGY ENPTYKYLEQ MQI
	Isoform 2. Checksum: 1F45B94DAE88BC23	FASTA	707	80,721
	10 20 30 40 50 60 MAATGTAAAA ATGRLLLLLL VGLTAPALAL AGYIEALAAN AGTGFAVAEP QIAMFCGKLN 70 80 90 100 110 120 MHVNIQTGKW EPDPTGTKSC FETKEEVLQY CQEMYPELQI TNVMEANQRV SIDNWCRRDK 130 140 150 160 170 180 KQCKSRFVTP FKCLVGEFVS DVLLVPEKCQ FFHKERMEVC ENHQHWHTVV KEACLTQGMT 190 200 210 220 230 240 LYSYGMLLPC GVDQFHGTEY VCCPQTKIIG SVSKEEEEED EEEEEEEDEE EDYDVYKSEF 250 260 270 280 290 300 PTEADLEDFT EAAVDEDDED EEEGEEVVED RDYYYDTFKG DDYNEENPTE PGSDGTMSDK 310 320 330 340 350 360 EITHDVKIPP TPLPTNDVDV YFETSADDNE HARFQKAKEQ LEIRHRNRMD RVKKEWEEAE 370 380 390 400 410 420 LQAKNLPKAE RQTLIQHFQA MVKALEKEAA SEKQQLVETH LARVEAMLND RRRMALENYL 430 440 450 460 470 480 AALQSDPPRP HRILQALRRY VRAENKDRLH TIRHYQHVLA VDPEKAAQMK SQVMTHLHVI 490 500 510 520 530 540 EERRNQSLSL LYKVPYVAQE IQEEIDELLQ EQRADMDQFT ASISETPVDV RVSSEESEEI 550 560 570 580 590 600 PPFHPFHPFP ALPENEDTQP ELYHPMKKGS GVGEQDGGLI GAEEKVINSK NKVDENMVID 610 620 630 640 650 660 ETLDVKEMIF NAERVGGLEE ERESVGPLRE DFSLSSSALI GLLVIAVAIA TVIVISLVML 670 680 690 700 RKRQYGTISH GIVEVDPMLT PEERHLNKMQ NHGYENPTYK YLEQMQI
	Isoform 3. Checksum: 788BCDC6E4487E18	FASTA	751	85,487
	10 20 30 40 50 60 MAATGTAAAA ATGRLLLLLL VGLTAPALAL AGYIEALAAN AGTGFAVAEP QIAMFCGKLN 70 80 90 100 110 120 MHVNIQTGKW EPDPTGTKSC FETKEEVLQY CQEMYPELQI TNVMEANQRV SIDNWCRRDK 130 140 150 160 170 180 KQCKSRFVTP FKCLVGEFVS DVLLVPEKCQ FFHKERMEVC ENHQHWHTVV KEACLTQGMT 190 200 210 220 230 240 LYSYGMLLPC GVDQFHGTEY VCCPQTKIIG SVSKEEEEED EEEEEEEDEE EDYDVYKSEF 250 260 270 280 290 300 PTEADLEDFT EAAVDEDDED EEEGEEVVED RDYYYDTFKG DDYNEENPTE PGSDGTMSDK 310 320 330 340 350 360 EITHDVKAVC SQEAMTGPCR AVMPRWYFDL SKGKCVRFIY GGCGGNRNNF ESEDYCMAVC 370 380 390 400 410 420 KAMIPPTPLP TNDVDVYFET SADDNEHARF QKAKEQLEIR HRNRMDRVKK EWEEAELQAK 430 440 450 460 470 480 NLPKAERQTL IQHFQAMVKA LEKEAASEKQ QLVETHLARV EAMLNDRRRM ALENYLAALQ 490 500 510 520 530 540 SDPPRPHRIL QALRRYVRAE NKDRLHTIRH YQHVLAVDPE KAAQMKSQVM THLHVIEERR 550 560 570 580 590 600 NQSLSLLYKV PYVAQEIQEE IDELLQEQRA DMDQFTASIS ETPVDVRVSS EESEEIPPFH 610 620 630 640 650 660 PFHPFPALPE NEGSGVGEQD GGLIGAEEKV INSKNKVDEN MVIDETLDVK EMIFNAERVG 670 680 690 700 710 720 GLEEERESVG PLREDFSLSS SALIGLLVIA VAIATVIVIS LVMLRKRQYG TISHGIVEVD 730 740 750 PMLTPEERHL NKMQNHGYEN PTYKYLEQMQ I
	Isoform 4. Checksum: E06B35911540A7FF	FASTA	695	79,252
	10 20 30 40 50 60 MAATGTAAAA ATGRLLLLLL VGLTAPALAL AGYIEALAAN AGTGFAVAEP QIAMFCGKLN 70 80 90 100 110 120 MHVNIQTGKW EPDPTGTKSC FETKEEVLQY CQEMYPELQI TNVMEANQRV SIDNWCRRDK 130 140 150 160 170 180 KQCKSRFVTP FKCLVGEFVS DVLLVPEKCQ FFHKERMEVC ENHQHWHTVV KEACLTQGMT 190 200 210 220 230 240 LYSYGMLLPC GVDQFHGTEY VCCPQTKIIG SVSKEEEEED EEEEEEEDEE EDYDVYKSEF 250 260 270 280 290 300 PTEADLEDFT EAAVDEDDED EEEGEEVVED RDYYYDTFKG DDYNEENPTE PGSDGTMSDK 310 320 330 340 350 360 EITHDVKIPP TPLPTNDVDV YFETSADDNE HARFQKAKEQ LEIRHRNRMD RVKKEWEEAE 370 380 390 400 410 420 LQAKNLPKAE RQTLIQHFQA MVKALEKEAA SEKQQLVETH LARVEAMLND RRRMALENYL 430 440 450 460 470 480 AALQSDPPRP HRILQALRRY VRAENKDRLH TIRHYQHVLA VDPEKAAQMK SQVMTHLHVI 490 500 510 520 530 540 EERRNQSLSL LYKVPYVAQE IQEEIDELLQ EQRADMDQFT ASISETPVDV RVSSEESEEI 550 560 570 580 590 600 PPFHPFHPFP ALPENEGSGV GEQDGGLIGA EEKVINSKNK VDENMVIDET LDVKEMIFNA 610 620 630 640 650 660 ERVGGLEEER ESVGPLREDF SLSSSALIGL LVIAVAIATV IVISLVMLRK RQYGTISHGI 670 680 690 VEVDPMLTPE ERHLNKMQNH GYENPTYKYL EQMQI
	Isoform 5. Checksum: 993641BFC15ED6E0	FASTA	522	59,151
	10 20 30 40 50 60 MAATGTAAAA ATGRLLLLLL VGLTAPALAL AGYIEALAAN AGTGFAVAEP QIAMFCGKLN 70 80 90 100 110 120 MHVNIQTGKW EPDPTGTKSC FETKEEVLQY CQEMYPELQI TNVMEANQRV SIDNWCRRDK 130 140 150 160 170 180 KQCKSRFVTP FKCLVPPTPL PTNDVDVYFE TSADDNEHAR FQKAKEQLEI RHRNRMDRVK 190 200 210 220 230 240 KEWEEAELQA KNLPKAERQT LIQHFQAMVK ALEKEAASEK QQLVETHLAR VEAMLNDRRR 250 260 270 280 290 300 MALENYLAAL QSDPPRPHRI LQALRRYVRA ENKDRLHTIR HYQHVLAVDP EKAAQMKSQV 310 320 330 340 350 360 MTHLHVIEER RNQSLSLLYK VPYVAQEIQE EIDELLQEQR ADMDQFTASI SETPVDVRVS 370 380 390 400 410 420 SEESEEIPPF HPFHPFPALP ENEGSGVGEQ DGGLIGAEEK VINSKNKVDE NMVIDETLDV 430 440 450 460 470 480 KEMIFNAERV GGLEEERESV GPLREDFSLS SSALIGLLVI AVAIATVIVI SLVMLRKRQY 490 500 510 520 GTISHGIVEV DPMLTPEERH LNKMQNHGYE NPTYKYLEQM QI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning of the cDNA for a human amyloid precursor protein homolog: evidence for a multigene family." Sprecher C.A., Grant F.J., Grimm G., O'Hara P.J., Norris F., Norris K., Foster D.C. Biochemistry 32:4481-4486(1993) [PubMed: 8485127] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Placenta.
[2]	"Isolation and characterization of APLP2 encoding a homologue of the Alzheimer's associated amyloid beta protein precursor." Wasco W., Gurubhagavatula S., Paradis M., Romano D.M., Sisodia S.S., Hyman B.T., Neve R.L., Tanzi R.E. Nat. Genet. 5:95-99(1993) [PubMed: 8220435] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Brain.
[3]	"A human amyloid precursor-like protein is highly homologous to a mouse sequence-specific DNA-binding protein." von der Kammer H., Hanes J., Klaudiny J., Scheit K.H. DNA Cell Biol. 13:1137-1143(1994) [PubMed: 7702756] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Ovary.
[4]	"Cloning of a protein that binds to a recognition sequence in the APP promoter." Vostrov A.A., Quitschke W.W., Schwarzman A.L., Blangy A., Cuzin F., Wesley U.V., Hagag N.G., Goldgaber D. Submitted (AUG-1993) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 39-763 (ISOFORM 2), NUCLEOTIDE SEQUENCE [MRNA] OF 229-763 (ISOFORM 3), NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4). Tissue: Brain.
[5]	"A new special gene in human testis (HSD-2)." Wang L., Miao S., Fan H., Wang H. Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Testis.
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 5). Tissue: Lung and Pancreas.
[7]	"Expression, purification and characterization of a Kunitz-type protease inhibitor domain from human amyloid precursor protein homolog." Petersen L.C., Bjorn S.E., Norris F., Norris K., Sprecher C., Foster D.C. FEBS Lett. 338:53-57(1994) [PubMed: 8307156] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 305-362 (ISOFORMS 1/3), FUNCTION, GLYCOSYLATION.
[8]	"Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer." Rikova K., Guo A., Zeng Q., Possemato A., Yu J., Haack H., Nardone J., Lee K., Reeves C., Li Y., Hu Y., Tan Z., Stokes M., Sullivan L., Mitchell J., Wetzel R., Macneill J., Ren J.M. , Yuan J., Bakalarski C.E., Villen J., Kornhauser J.M., Smith B., Li D., Zhou X., Gygi S.P., Gu T.-L., Polakiewicz R.D., Rush J., Comb M.J. Cell 131:1190-1203(2007) [PubMed: 18083107] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-750 AND TYR-755, MASS SPECTROMETRY.
[9]	"An extensive survey of tyrosine phosphorylation revealing new sites in human mammary epithelial cells." Heibeck T.H., Ding S.-J., Opresko L.K., Zhao R., Schepmoes A.A., Yang F., Tolmachev A.V., Monroe M.E., Camp D.G. II, Smith R.D., Wiley H.S., Qian W.-J. J. Proteome Res. 8:3852-3861(2009) [PubMed: 19534553] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-750, MASS SPECTROMETRY. Tissue: Mammary epithelium.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	S60099 mRNA. Translation: AAC60589.1. L09209 mRNA. Translation: AAA35526.1. L27631 mRNA. Translation: AAC41701.1. Z22572 mRNA. Translation: CAA80295.1. L19597 mRNA. Translation: AAA35601.1. L23113 mRNA. Translation: AAA36032.1. L23114 mRNA. Translation: AAA36130.1. AF168956 mRNA. Translation: AAD47291.1. BC000373 mRNA. Translation: AAH00373.1. BC004371 mRNA. Translation: AAH04371.1.
IPI	IPI00031030. IPI00220977. IPI00220978. IPI00334946. IPI00884988.
PIR	A49321. S41082.
RefSeq	NP_001135748.1. NP_001135749.1. NP_001135750.1. NP_001633.1.
3D structure databases
SMR	Q06481. Positions 47-139.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-31047N.
IntAct	Q06481. 8 interactions.
STRING	Q06481.
Protein family/group databases
MEROPS	I02.016.
PTM databases
PhosphoSite	Q06481.
Proteomic databases
PRIDE	Q06481.
Genome annotation databases
Ensembl	ENST00000263574; ENSP00000263574; ENSG00000084234; Homo sapiens. [Genome view]
GeneID	334.
KEGG	hsa:334.
UCSC	uc001qfp.1. human. uc001qfq.1. human. uc001qfs.1. human. uc001qft.1. human. uc001qfv.1. human.
Organism-specific databases
CTD	334.
GeneCards	GC11P129445.
HGNC	HGNC:598. APLP2.
MIM	104776. gene.
PharmGKB	PA24885.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q06481.
InParanoid	Q06481.
OMA	LHTIRHY.
OrthoDB	EOG98PQ4R.
Gene expression databases
ArrayExpress	Q06481.
Bgee	Q06481.
CleanEx	HS_APLP2. HS_APPL2.
Genevestigator	Q06481.
GermOnline	ENSG00000084234. Homo sapiens.
Family and domain databases
InterPro	IPR008155. Amyloid_glyco. IPR011178. Amyloid_glyco_Cu-bd. IPR008154. Amyloid_glyco_extra. IPR019744. Amyloid_glyco_extracell_CS. IPR015849. Amyloid_glyco_heparin-bd. IPR019745. Amyloid_glyco_intracell_CS. IPR019543. APP_amyloid. IPR002223. Prot_inh_Kunz-m. [Graphical view]
Gene3D	G3DSA:3.30.1490.140. Amyloid_glyco_Cu-bd. 1 hit. G3DSA:3.90.570.10. Amyloid_glyco_heparin-bd. 1 hit. G3DSA:4.10.410.10. Prot_inh_Kunz-m. 1 hit.
Pfam	PF02177. A4_EXTRA. 1 hit. PF10515. APP_amyloid. 1 hit. PF00014. Kunitz_BPTI. 1 hit. [Graphical view]
PRINTS	PR00203. AMYLOIDA4. PR00759. BASICPTASE.
SMART	SM00006. A4_EXTRA. 1 hit. SM00131. KU. 1 hit. [Graphical view]
PROSITE	PS00319. A4_EXTRA. 1 hit. PS00320. A4_INTRA. 1 hit. PS00280. BPTI_KUNITZ_1. 1 hit. PS50279. BPTI_KUNITZ_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	1383.
PMAP-CutDB	Q06481.
SOURCE	Search...

Entry information

Entry name

APLP2_HUMAN

Accession

Primary (citable) accession number: Q06481
Secondary accession number(s): Q13861 , Q14594, Q14662, Q71U10, Q7M4L3, Q9BT36

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	October 1, 1996
Last modified:	December 15, 2009
This is version 109 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.