Tyrosinase (TYR)

Tyrosinase (EC 1.14.18.1) catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. Kwon et al. screened a lambda-gt11 human melanocyte cDNA library with antibodies against hamster tyrosinase to isolate a clone for human tyrosinase. The deduced 548-amino acid protein has a molecular mass of 62,610 Da and contains glycosylation sites and histidine-rich sites that could be used for copper binding.

OCA1 is the gene associated with albinism, an autosomal recessive disorder. Albinism occurs when something causes the OCA1 gene to function improperly. The locus of gene OCA1 may be written "11q1.4-q2.1", meaning it is on the long arm of chromosome 11, somewhere in the range of sub-band 4 of band 1, and sub-band 1 of band 2.