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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. Note: This description may include information from UniProtKB.
Protein type: EC; Endoplasmic reticulum; Isomerase; Lipid Metabolism - steroid biosynthesis; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: Xp11.23
Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; integral to plasma membrane; nuclear envelope
Molecular Function: drug transporter activity; protein binding; 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
Reference #:  Q15125 (UniProtKB)
Alt. Names/Synonyms: 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; 3-beta-hydroxysteroid-delta-8,delta-7-isomerase; CDPX2; CHO2; Cholestenol Delta-isomerase; Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome); CPX; CPXD; D8-D7 sterol isomerase; Delta(8)-Delta(7) sterol isomerase; EBP; emopamil binding protein (sterol isomerase); Emopamil-binding protein; emopamil-binding protein (sterol isomerase); sterol 8-isomerase
Gene Symbols: EBP
Molecular weight: 26,353 Da
Basal Isoelectric point: 7.76  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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