BOCA D15S12 EYCL3 P PED BEY BEY1 BEY2 EYCL HCL3 EYCL2 SHEP1
Gene Full Name
Oculocutaneous albinism II
Gene Summary
OCA2 is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine - a precursor of melanin. Mutations in the gene encoding OCA2 result in type 2 oculocutaneous albinism.This gene encodes the human homologue of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine - a precursor of melanin. Mutations in this gene result in type 2 oculocutaneous albinism. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.
Alternative Names
BOCA D15S12 EYCL3 P PED BEY BEY1 BEY2 EYCL HCL3 EYCL2 SHEP1