Entrez Summary: The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008].
UniProt Summary: Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers. {ECO:0000269|PubMed:12760743, ECO:0000269|PubMed:8798407, ECO:0000269|PubMed:9894009}.
Pfam DomainsGO Terms
Pfam Domains
EBP
GO Terms
C-8 sterol isomerase activity
cholestenol delta-isomerase activity
cholesterol biosynthetic process via lathosterol
cholesterol biosynthetic process via desmosterol
steroid delta-isomerase activity
xenobiotic transmembrane transporter activity
xenobiotic transport
cholesterol biosynthetic process
secondary alcohol biosynthetic process
sterol biosynthetic process
alcohol biosynthetic process
cholesterol metabolic process
steroid biosynthetic process
secondary alcohol metabolic process
sterol metabolic process
transmembrane signaling receptor activity
nuclear envelope
organic hydroxy compound biosynthetic process
cytoplasmic vesicle
steroid metabolic process
alcohol metabolic process
organic hydroxy compound metabolic process
skeletal system development
lipid biosynthetic process
small molecule biosynthetic process
endoplasmic reticulum membrane
endoplasmic reticulum
lipid metabolic process
organic cyclic compound biosynthetic process
integral component of plasma membrane
small molecule metabolic process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)