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References

These sources were used to develop the Genetics Home Reference gene summary on the OCA2 gene.

Bittel DC, Kibiryeva N, Talebizadeh Z, Butler MG. Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD. J Med Genet. 2003 Aug;40(8):568-74. PubMed citation
Bittel DC, Kibiryeva N, Talebizadeh Z, Driscoll DJ, Butler MG. Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD. Genomics. 2005 Jan;85(1):85-91. PubMed citation
Brilliant MH. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Res. 2001 Apr;14(2):86-93. Review. PubMed citation
Duffy DL, Montgomery GW, Chen W, Zhao ZZ, Le L, James MR, Hayward NK, Martin NG, Sturm RA. A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Am J Hum Genet. 2007 Feb;80(2):241-52. Epub 2006 Dec 20. PubMed citation
Entrez Gene
Fridman C, Hosomi N, Varela MC, Souza AH, Fukai K, Koiffmann CP. Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. Am J Med Genet A. 2003 Jun 1;119A(2):180-3. PubMed citation
Gene Review: Oculocutaneous Albinism Type 2
Kerr R, Stevens G, Manga P, Salm S, John P, Haw T, Ramsay M. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. Hum Mutat. 2000;15(2):166-72. Erratum in: Hum Mutat 2000;16(1):following 86. PubMed citation
Oetting WS, Garrett SS, Brott M, King RA. P gene mutations associated with oculocutaneous albinism type II (OCA2). Hum Mutat. 2005 Mar;25(3):323. PubMed citation
Saitoh S, Oiso N, Wada T, Narazaki O, Fukai K. Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. J Med Genet. 2000 May;37(5):392-4. PubMed citation
Spritz RA, Bailin T, Nicholls RD, Lee ST, Park SK, Mascari MJ, Butler MG. Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. Am J Med Genet. 1997 Jul 11;71(1):57-62. PubMed citation
Suzuki T, Miyamura Y, Matsunaga J, Shimizu H, Kawachi Y, Ohyama N, Ishikawa O, Ishikawa T, Terao H, Tomita Y. Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. J Invest Dermatol. 2003 May;120(5):781-3. PubMed citation
Toyofuku K, Valencia JC, Kushimoto T, Costin GE, Virador VM, Vieira WD, Ferrans VJ, Hearing VJ. The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. Pigment Cell Res. 2002 Jun;15(3):217-24. Erratum in: Pigment Cell Res. 2002 Oct;15(5):400.. PubMed citation


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