Article
Towards understanding CRUMBS function in retinal dystrophies.
Human molecular genetics - 15 Oct 2006
Richard Mélisande, Roepman Ronald, Aartsen Wendy M, van Rossum Agnes G S H, den Hollander Anneke I, Knust Elisabeth, Wijnholds Jan, Cremers Frans P M
Abstract excerpt
Mutations in the Crumbs homologue 1 (CRB1) gene cause autosomal recessive retinitis pigmentosa (arRP) and autosomal Leber congenital amaurosis (arLCA). The crumbs (crb) gene was originally identified in Drosophila and encodes a large transmembrane protein required for maintenance of apico-basal cell polarity and adherens junction in embryonic epithelia. Human CRB1 and its two paralogues, CRB2 and CRB3, are highly...
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