3-Beta-Hydroxysteroid-Delta (8),delta (7)-Isomerase (EBP) Mouse Recombinant Protein

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]

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