Recombinant Human Crumbs homolog 1 (CRB1), Truncated

Uniprot Id

P82279

Target Species

Human

Target Name

CRB1

Target Full Name

Protein crumbs homolog 1

Target Function

Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion.

Target Involvement

Retinitis pigmentosa 12 (RP12); Leber congenital amaurosis 8 (LCA8); Pigmented paravenous chorioretinal atrophy (PPCRA)

Target Subcellular Location

[Isoform 1]: Apical cell membrane; Single-pass type I membrane protein. Secreted. Cell projection, cilium, photoreceptor outer segment. Photoreceptor inner segment.; [Isoform 2]: Secreted.

Target Protein Families

Crumbs protein family

Target Tissue Specificity

Preferential expression in retina, also expressed in brain, testis, fetal brain and fetal eye. Expressed at the outer limiting membrane and apical to adherens junctions in the retina.

Target Synonyms

CRB1; CRUM1_HUMAN; Protein crumbs homolog 1

Target Background

This gene encodes a protein which is similar to the 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 retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.