OCA2


OCA2
Oculocutaneous albinism II
Identifiers
Symbols OCA2; BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1
External IDs OMIM611409 MGI97454 HomoloGene37281 GeneCards: OCA2 Gene
RNA expression pattern
PBB GE OCA2 206498 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4948 18431
Ensembl ENSG00000104044 ENSMUSG00000030450
UniProt Q04671 Q0VBP9
RefSeq (mRNA) NM_000275 NM_021879.2
RefSeq (protein) NP_000266 NP_068679.1
Location (UCSC) Chr 15:
28 – 28.34 Mb
Chr 7:
63.5 – 63.79 Mb
PubMed search [1] [2]

P protein is a protein that in humans is encoded by the OCA2 gene.[1]

OCA2 encodes the human homologue of the mouse p (pink-eyed dilution) gene. The P protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine - a precursor of melanin. Certain mutations in OCA2 result in type 2 oculocutaneous albinism.[1]

A mutation in the HERC2 gene adjacent to OCA2, affecting OCA2's expression in the human iris, is found common to nearly all people with blue eyes. It has been hypothesized that all blue eyed humans share a single common ancestor with whom the mutation originated.[2][3][4]

A study has found the His615Arg allele of OCA2 is involved in the light skin tone in people of East Asian descent.[5]

References

  1. ^ a b "Entrez Gene: OCA2 oculocutaneous albinism II (pink-eye dilution homolog, mouse)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4948. 
  2. ^ Bryner J (2008-01-31). "Here's what made those brown eyes blue". Health News. MSNBC. http://www.msnbc.msn.com/id/22934464/wid/11915773?GT1=10815#storyContinued. Retrieved 2008-11-06. ; Bryner J (2008-01-31). "One Common Ancestor Behind Blue Eyes". LiveScience. Imaginova Corp.. http://www.livescience.com/health/080131-blue-eyes.html. Retrieved 2008-11-06. ; "Blue-eyed humans have a single, common ancestor". News. University of Copenhagen. 2008-01-30. http://www.ku.dk/english/news/?content=http://www.ku.dk/english/news/blue-eyes.htm. Retrieved 2008-11-06. 
  3. ^ Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, Hansen L (March 2008). "Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression". Human genetics 123 (2): 177–87. doi:10.1007/s00439-007-0460-x. PMID 18172690. 
  4. ^ Sturm RA, Duffy DL, Zhao ZZ, Leite FP, Stark MS, Hayward NK, Martin NG, Montgomery GW (February 2008). "A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color". American journal of human genetics 82 (2): 424–31. doi:10.1016/j.ajhg.2007.11.005. PMC 2427173. PMID 18252222. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2427173. 
  5. ^ Edwards M, Bigham A, Tan J, Li S, Gozdzik A, Ross K, Jin L, Parra EJ (2010). McVean, Gil. ed. "Association of the OCA2 Polymorphism His615Arg with Melanin Content in East Asian Populations: Further Evidence of Convergent Evolution of Skin Pigmentation". PLoS Genet. 6 (3): e1000867. doi:10.1371/journal.pgen.1000867. PMC 2832666. PMID 20221248. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2832666. 

External links

Further reading




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Look at other dictionaries:

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  • OCA2 — oculocutaneous albinism type 2 …   Medical dictionary

  • Okulokutaner Albinismus Typ 2 — Menschen mit OCA 2 können blonde Haare haben, wie Mem Nahadr sie hat. Ob Nahadrs Albinismus OCA 2 ist, ist unbekannt …   Deutsch Wikipedia

  • Eye color — is a polygenic trait and is determined by the amount and type of pigments in the eye s iris.Wielgus AR, Sarna T. Melanin in human irides of different color and age of donors. Pigment Cell Res. 2005 Dec; 18(6):454 64. PMID 16280011.] Prota G, Hu… …   Wikipedia

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  • Okulokutaner Albinismus Typ 4 — Der Okulokutane Albinismus Typ 4 (OCA 4) ist eine Form des Albinismus, die zu aufgehellter Haut und Haarfarbe aufgrund einer Mutation des MATP Gens führt. Weitere Namen des Gens sind: underwhite (uw), dominant brown (Dbr), B/AIM 1 like protein,… …   Deutsch Wikipedia

  • Albinotisch — Klassifikation nach ICD 10 E70.3 Albinismus …   Deutsch Wikipedia

  • Pigmentstoffarmer Mensch — Klassifikation nach ICD 10 E70.3 Albinismus …   Deutsch Wikipedia

  • Mal aux yeux — Œil humain Un œil humain Œil huma …   Wikipédia en Français


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