Oculocutaneous albinism type 1A. Adrienne Bonvini. What is it?. It is an autosomal recessive disorder characterized by an absence of pigment in the eyes, hair, and skin.
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There is evidence of undetected mutations that may be responsible for OCA1. This evidence is from people with the OCA1A pheotype with only a single identifiable mutation, who are most likely compound heterozygotes with a second mutation that has yet to be identified.
Missense subsitutions in the tyrosinase gene alters codons 355 (thr to lys) and codon 365 (asp to asn). These mutations cause the tyrosinase activity to be disrupted, causing the lack of pigmentation seen in albinism. Both of these mutations occur in the copper binding region of the enzyme.