NP_031924.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
NCBI Official Synonym Full Names
phenylalkylamine Ca2+ antagonist (emopamil) binding protein
NCBI Protein Information
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; tattered; D8-D7 sterol isomerase; emopamil-binding protein; cholestenol Delta-isomerase; delta(8)-Delta(7) sterol 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_MOUSE
NCBI Summary for Ebp
This gene encodes a transmembrane protein that localizes to the endoplasmic reticulum. This protein catalyses the conversion of delta8 to delta7 sterols, an important step in sterol biosynthesis. Mutations in this gene are responsible for the mouse tattered mutant phenotype. Tattered males are embryonic lethal, while heterozygous females have developmental defects. Deficiency of the related gene in human causes X-linked dominant chondrodysplasia punctata. [provided by RefSeq, May 2015]
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: EC 5.3.3.5; Membrane protein, integral; Endoplasmic reticulum; Lipid Metabolism - steroid biosynthesis; Isomerase; Membrane protein, multi-pass
Cellular Component: endoplasmic reticulum membrane; membrane; intracellular membrane-bound organelle; endoplasmic reticulum; integral to membrane
Molecular Function: isomerase activity; cholestenol delta-isomerase activity; C-8 sterol isomerase activity
Biological Process: steroid metabolic process; cholesterol metabolic process; sterol biosynthetic process; hemopoiesis; lipid metabolic process; cholesterol biosynthetic process; steroid biosynthetic process; sterol metabolic process
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Pathways associated with Ebp recombinant protein
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 II (via 24,25-dihydrolanosterol) Pathway antibodies |
Cholesterol Biosynthesis II (via 24,25-dihydrolanosterol) Pathway Diagram |
Cholesterol Biosynthesis III (via Desmosterol) Pathway antibodies |
Cholesterol Biosynthesis III (via Desmosterol) Pathway Diagram |
Diseases associated with Ebp recombinant protein
Organs/Tissues associated with Ebp recombinant protein
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