SHROOM2

SHROOM2

A gene on chromosome Xp22.3 that encodes a protein which may play a role in endothelial cell morphology changes during cell spreading. In the retinal pigment epithelium, it may regulate biogenesis of melanosomes and promote their association with the apical cell surface by inducing gamma-tubulin redistribution.

Molecular pathology
SHROOM2 is a candidate gene for ocular albinism type 1.
References in periodicals archive ?
The defective X chromosome region is linked to reduced activity of a gene called SHROOM2 that controls how cells develop and take shape.