CRB1

Crumbs homolog 1 is a is_associated_with::protein that in humans is encoded by the CRB1 is_associated_with::gene.

This gene encodes a is_associated_with::protein which is similar to the is_associated_with::Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of is_associated_with::retinitis pigmentosa, RP12, and with is_associated_with::Leber congenital amaurosis. Alternatively spliced transcript variants have been observed but their full-length nature has yet to be determined. One small study suggests that mutations in this gene are associated with is_associated_with::keratoconus in patients that already have Leber's congenital amaurosis.