Entrez Summary: This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008].
UniProt Summary: Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development. {ECO:0000250|UniProtKB:P57680}.
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
plasma membrane protein complex
positive regulation of smoothened signaling pathway
endochondral bone growth
bone growth
ciliary membrane
smoothened signaling pathway
regulation of smoothened signaling pathway
organ growth
ciliary basal body
cartilage development
cilium
connective tissue development
muscle organ development
developmental growth
growth
muscle structure development
skeletal system development
positive regulation of signal transduction
tissue development
positive regulation of cell communication
positive regulation of signaling
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)