albinism oculocutaneous type 1B

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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.
References in periodicals archive ?
In OCA1B the hair and skin may develop some pigment with the passage of time (after 1 to 3 years).
OCA 1'de tirozinaz ekspiesyonunda degiskenlik ve melanin pigmenti sentezindeki bir seri defekt sonucu tirozinden dihidroksifenilalanin sentezi bozulur Defektif tirozinaz enzimi uretimi nedeniyle enzim aktivitesinin hic olmadigi OCA1A ve enzim aktivitesinin mevcut fakat dusuk seviyede bulundugu OCA1B alt tiplerine ayrilir.