oculocutaneous albinism type 4

(redirected from OCA4)

oculocutaneous albinism type 4

An inherited disorder of pigmentation (OMIM:606574) characterised by reduced biosynthesis of melanin in the skin, hair and eyes, and classic albinism-type ocular abnormalities: decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels and nystagmus.

Molecular pathology
OCA4 is caused by a mutation of SLC45A2 on chromosome 5p13.2, which encodes a transporter protein that mediates melanin synthesis.
References in periodicals archive ?
There are four major forms: (i) OCA1 (mutated tyrosinase (TYR) gene); [12] (ii) OCA2 (mutated OCA2 gene); [13] (iii) OCA3 (mutated tyrosinase-related protein 1 (TYRP1) gene); [14] and (iv) OCA4 (mutated solute carrier family 45, member 2 (SLC45A2) gene).
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.
3 AR albinism OCA2 15q12--q13 AR OCA3 TYRP1 9p23 AR OCA4 MATP 5p13.