OCA2

(redirected from SHEP1)

OCA2

A gene on chromosome 15q11.2-q12 that encodes a protein which may be involved in tyrosine transport within melanocyte and play a role in regulating the pH of melanosomes and melanosome maturation, as well as in post-translational processing of tyrosinase, which catalyses the limiting reaction in melanin synthesis. OCA2 may serve as a key control point at which skin colour variation is determined; it is a major determinant of brown and/or blue eye colour.

Molecular pathology
Defects in OCA2  cause oculocutaneous albinism type 2, see there.
References in periodicals archive ?
Commensurate with the coordinate variation of p75NTR and CRABP1 in native neuroblastoma cells, SHEP1 cells induced to overexpress p75NTR (p75OE cells) had higher levels of CRABP1 protein than mock-transfected control cells (Figure 2(a)).