albinism oculocutaneous type 1B
albinism oculocutaneous type 1B
An 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.Molecular pathology
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.