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

Farrington et al., "Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk," Nature Genetics, vol.

Modulation of Colorectal Cancer Risk by Polymorphisms in 51Gln/His, 64Ile/Val, and 148Asp/Glu of APEX Gene; 23Gly/Ala of XPA Gene; and 689Ser/Arg of ERCC4 Gene

The defective X chromosome region is linked to reduced activity of a gene called SHROOM2 that controls how cells develop and take shape.

Genetic fault link to male bowel cancer

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