Entrez Summary: 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.[provided by RefSeq, Apr 2012].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
Laminin G 1
EGF CA
EGF
Laminin G 2
GO Terms
eye photoreceptor cell development
eye photoreceptor cell differentiation
establishment or maintenance of epithelial cell apical/basal polarity
heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
photoreceptor cell development
photoreceptor inner segment
establishment or maintenance of bipolar cell polarity
establishment or maintenance of apical/basal cell polarity
photoreceptor cell differentiation
microvillus
plasma membrane organization
cell-cell adherens junction
eye morphogenesis
establishment or maintenance of cell polarity
sensory organ morphogenesis
cell-cell adhesion via plasma-membrane adhesion molecules
apical plasma membrane
eye development
visual system development
sensory system development
endomembrane system organization
cell-cell adhesion
sensory organ development
protein-containing complex
calcium ion binding
neuron development
membrane organization
cell adhesion
biological adhesion
animal organ morphogenesis
neuron differentiation
cell-cell signaling
generation of neurons
neurogenesis
cell development
extracellular region
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)