Disease-gene associations mined from literature

Literature associating OCA2 and cataract 18

OCA2 [ENSP00000346659]

Melanocyte-specific transporter protein; Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color; Belongs to the CitM (TC 2.A.11) transporter family.

Synonyms:  OCA2,  OCA2p,  hOCA2,  C9JDV3,  C9JLG9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM