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