BC001549
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
26,353 Da
NCBI Official Full Name
Homo sapiens emopamil binding protein (sterol isomerase), mRNA
NCBI Official Synonym Full Names
emopamil binding protein (sterol isomerase)
NCBI Protein Information
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
UniProt Protein Name
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
UniProt Synonym Protein Names
Cholestenol Delta-isomerase; Delta(8)-Delta(7) sterol isomerase; D8-D7 sterol isomerase; Emopamil-binding protein
UniProt Synonym Gene Names
UniProt Entry Name
EBP_HUMAN
NCBI Summary for EBP
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 Comments for EBP
EBP: Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers. Defects in EBP are the cause of chondrodysplasia punctata X-linked dominant type 2 (CDPX2); also known as Conradi-Hunermann-Happle syndrome. CDP is a clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues. Belongs to the EBP family.
Protein type: Membrane protein, integral; Lipid Metabolism - steroid biosynthesis; EC 5.3.3.5; Membrane protein, multi-pass; Isomerase; Endoplasmic reticulum
Chromosomal Location of Human Ortholog: Xp11.23-p11.22
Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; integral to plasma membrane; nuclear envelope
Molecular Function: drug transporter activity; steroid delta-isomerase activity; transmembrane receptor activity
Biological Process: cholesterol biosynthetic process; cholesterol biosynthetic process via desmosterol; cholesterol biosynthetic process via lathosterol; cholesterol metabolic process; skeletal development
Disease: Chondrodysplasia Punctata 2, X-linked Dominant; Mend Syndrome
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Pathways associated with EBP cdna clone
Products by Pathway |
Pathway Diagram |
Cholesterol Biosynthesis Pathway antibodies |
Cholesterol Biosynthesis Pathway Diagram |
Cholesterol Biosynthesis, Squalene 2,3-epoxide => Cholesterol Pathway antibodies |
Cholesterol Biosynthesis, Squalene 2,3-epoxide => Cholesterol Pathway Diagram |
Cholesterol Biosynthesis, Squalene 2,3-epoxide => Cholesterol Pathway antibodies |
Cholesterol Biosynthesis, Squalene 2,3-epoxide => Cholesterol Pathway Diagram |
Metabolism Pathway antibodies |
Metabolism Pathway Diagram |
Metabolism Of Lipids And Lipoproteins Pathway antibodies |
Metabolism Of Lipids And Lipoproteins Pathway Diagram |
Steroid Biosynthesis Pathway antibodies |
Steroid Biosynthesis Pathway Diagram |
Steroid Biosynthesis Pathway antibodies |
Steroid Biosynthesis Pathway Diagram |
Cholesterol Biosynthesis I Pathway antibodies |
Cholesterol Biosynthesis I Pathway Diagram |
Cholesterol Biosynthesis I Pathway antibodies |
Cholesterol Biosynthesis I Pathway Diagram |
Cholesterol Biosynthesis II (via 24,25-dihydrolanosterol) Pathway antibodies |
Cholesterol Biosynthesis II (via 24,25-dihydrolanosterol) Pathway Diagram |
Diseases associated with EBP cdna clone
Organs/Tissues associated with EBP cdna clone
|