OCA2
MIM.203200
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