OCA1A

OCA1A

Abbreviation for:
oculocutaneous albinism type 1A (see there)
References in periodicals archive ?
Clinically it is sub-categorized into OCA1A characterized by complete loss of tyrosinase activity and OCA1B characterized by reduced enzyme activity4.
Iris color in these patients is same as like in OCA1A cases.
The most severe phenotype, OCA1A or tyrosinase-negative albinism, results from a complete lack of enzyme activity and pigment remains completely absent in the skin, hair and eyes throughout life.
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.