Paired box protein Pax-5 (B-cell-specific transcription factor) (BSAP)
Cell localization:Nucleus.The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene resµLt in ocµLocutaneous albinism, and nonpathologic polymorphisms resµLt in skin pigmentation variation. The human genome contains a pseudogene similar to the 3 half of this gene. [provided by RefSeq, Oct 2008]
