OCA2
| Oculocutaneous albinism II (pink-eye dilution homolog, mouse) | |||||||||||
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| Identifiers | |||||||||||
| Symbols | OCA2 ; BOCA; D15S12; P; PED | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 37281 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE OCA2 206498 at tn.png | |||||||||||
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| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
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Oculocutaneous albinism II (pink-eye dilution homolog, mouse), also known as OCA2, is a human 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. Mutations in OCA2 result in type 2 oculocutaneous albinism.[1]
A mutation in the OCA2 is found common to nearly all people with blue eyes, and has made the theory that all blue eyed humans share a single common ancestor with whom the mutation originated. [2]
References
Further reading
- Oetting WS, King RA (1999). "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism". Hum. Mutat. 13 (2): 99–115. doi:10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C. PMID 10094567.
- Brilliant MH (2001). "The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH". Pigment Cell Res. 14 (2): 86–93. PMID 11310796.
- Ramsay M, Colman MA, Stevens G; et al. (1992). "The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12". Am. J. Hum. Genet. 51 (4): 879–84. PMID 1415228.
- Gardner JM, Nakatsu Y, Gondo Y; et al. (1992). "The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes". Science. 257 (5073): 1121–4. PMID 1509264.
- Ludowese CJ, Thompson KJ, Sekhon GS, Pauli RM (1992). "Absence of predictable phenotypic expression in proximal 15q duplications". Clin. Genet. 40 (3): 194–201. PMID 1773534.
- Lee ST, Nicholls RD, Jong MT; et al. (1995). "Organization and sequence of the human P gene and identification of a new family of transport proteins". Genomics. 26 (2): 354–63. PMID 7601462.
- Spritz RA, Fukai K, Holmes SA, Luande J (1995). "Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2)". Am. J. Hum. Genet. 56 (6): 1320–3. PMID 7762554.
- Lee ST, Nicholls RD, Schnur RE; et al. (1995). "Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)". Hum. Mol. Genet. 3 (11): 2047–51. PMID 7874125.
- Durham-Pierre D, Gardner JM, Nakatsu Y; et al. (1994). "African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism". Nat. Genet. 7 (2): 176–9. doi:10.1038/ng0694-176. PMID 7920637.
- Lee ST, Nicholls RD, Bundey S; et al. (1994). "Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism". N. Engl. J. Med. 330 (8): 529–34. PMID 8302318.
- Rinchik EM, Bultman SJ, Horsthemke B; et al. (1993). "A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism". Nature. 361 (6407): 72–6. doi:10.1038/361072a0. PMID 8421497.
- Spritz RA, Lee ST, Fukai K; et al. (1997). "Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)". Hum. Mutat. 10 (2): 175–7. doi:10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO;2-X. PMID 9259203.
- Kerr R, Stevens G, Manga P; et al. (2000). "Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa". Hum. Mutat. 15 (2): 166–72. doi:10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO;2-Z. PMID 10649493.
- Oetting WS, Gardner JM, Fryer JP; et al. (2000). "Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online". Hum. Mutat. 12 (6): 434. doi:10.1002/(SICI)1098-1004(1998)12:6<434::AID-HUMU16>3.0.CO;2-7. PMID 10671067.
- Passmore LA, Kaesmann-Kellner B, Weber BH (2000). "Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population". Hum. Genet. 105 (3): 200–10. PMID 10987646.
- Manga P, Kromberg J, Turner A; et al. (2001). "In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified". Am. J. Hum. Genet. 68 (3): 782–7. PMID 11179026.
- Manga P, Orlow SJ (2002). "Inverse correlation between pink-eyed dilution protein expression and induction of melanogenesis by bafilomycin A1". Pigment Cell Res. 14 (5): 362–7. PMID 11601658.
- Toyofuku K, Valencia JC, Kushimoto T; et al. (2002). "The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase". Pigment Cell Res. 15 (3): 217–24. PMID 12028586.
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