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OCA2

MIM.203200

Tuesday 4 December 2007

Pathology

- oculocutaneous albinism type II (OCA2) is caused by mutation in the OCA2 gene (MIM.611409).

See also

- OCA1A (MIM.203100), also known as tyrosinase-negative OCA, is caused by mutation in the tyrosinase gene (TYR) (MIM.606933).

References

- 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. PMID: 17236130