albinism oculocutaneous type 1B(redirected from oculocutaneous albinism type 1B)
albinism oculocutaneous type 1BAn autosomal recessive disorder (OMIM:203100) characterised by a partial defect in tyrosinase activity, resulting in reduced melanin in skin, hair, and eyes. Centrally located hair and skin is lighter in colour because the phenotypical variant of tyrosinase loses enzymatic activity above 35ºC.
Defects in TYR, which encodes tyrosinase, a copper-containing oxidase involved in melanin formation and metabolism of other polyphenolic compounds, cause oculocutaneous albinism type 1B.
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