| Emopamil-binding Protein | OKDB#: 2494 |
| Symbols: | EBP | Species: | human | ||
| Synonyms: | 3-@BETA-HYDROXYSTEROID-DELTA-8,DELTA-7 ISOMERASE | Locus: | Xp11.23-p11.22 in Homo sapiens |
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| General Comment | NCBI Summary: Emopamil-binding protein (EBP) 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. EBP 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 EBP 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). | ||||
| General function | Enzyme | ||||
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| Ovarian function | Steroid metabolism | ||||
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| Ovarian localization | |||||
| Comment | found in ovulation array | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | June 18, 2004, 9:38 a.m. | by: |
hsueh email:
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| last update: | May 28, 2005, 12:21 p.m. | by: | system email: |
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