SCP2 Antibody – Rabbit Polyclonal

This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[provided by RefSeq, Aug 2010]

SCP2: Mediates in vitro the transfer of all common phospholipids, cholesterol and gangliosides between membranes. May play a role in regulating steroidogenesis. Defects in SCP2 are a cause of leukoencephalopathy with dystonia and motor neuropathy (LDMN); also known as sterol carrier protein 2 deficiency. LDMN is a syndrome characterized by leukoencephalopathy, dystonic head tremor, spasmodic torticollis and reduced tendon reflexes in lower extremities. Additional features include hyposmia, pathologic saccadic eye movements, a slight hypoacusis, accumulation of branched-chain pristanic acid in plasma, and the presence of abnormal bile alcohol glucuronides in urine. 3 isoforms of the human protein are produced by alternative promoter.

Protein type: Lipid Metabolism - primary bile acid biosynthesis; EC 2.3.1.176; Lipid-binding; Transferase; Mitochondrial

Chromosomal Location of Human Ortholog: 1p32

Cellular Component: nucleoplasm; peroxisomal matrix; protein complex; mitochondrion; membrane; intracellular membrane-bound organelle; cytoplasm; peroxisome

Molecular Function: protein binding; acyl-CoA binding; cholesterol binding; phosphatidylinositol transporter activity; propanoyl-CoA C-acyltransferase activity; receptor binding

Biological Process: bile acid biosynthetic process; progesterone biosynthetic process; fatty acid beta-oxidation using acyl-CoA oxidase; peroxisome organization and biogenesis; inositol trisphosphate biosynthetic process; bile acid metabolic process; unsaturated fatty acid metabolic process; positive regulation of intracellular cholesterol transport; phospholipid transport; cellular lipid metabolic process; lipid transport; steroid biosynthetic process; positive regulation of steroid metabolic process

Disease: Leukoencephalopathy With Dystonia And Motor Neuropathy