Mouse emopamil binding protein (sterol isomerase) ELISA Kit | EBP elisa kit
Mouse 3-beta-hydroxysteroid-Delta, EBP ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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 Description
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; Endoplasmic reticulum; Lipid Metabolism - steroid biosynthesis; Membrane protein, multi-pass; EC 5.3.3.5; Isomerase
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; steroid biosynthetic process; cholesterol biosynthetic process; sterol metabolic process
Research Articles on EBP
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Product Notes
The Mouse EBP ebp (Catalog #AAA9332419) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9332419 ELISA Kit recognizes Mouse EBP. It is sometimes possible for the material contained within the vial of "emopamil binding protein (sterol isomerase), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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