Presku: | AAP44255 |
Size: | 100 ug |
Weight: | 93kDa |
Gene: | 4948 |
Format: | Lyophilized powder |
Target: | 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 |