Entrez Summary: This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
ciliary part
photoreceptor cell morphogenesis
ciliary base
photoreceptor cell development
photoreceptor inner segment
photoreceptor cell differentiation
cell morphogenesis involved in neuron differentiation
cell junction
cell morphogenesis involved in differentiation
cell morphogenesis
neuron development
cellular component morphogenesis
neuron differentiation
generation of neurons
neurogenesis
cell development
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)