gene: SCP2

organismHomo sapiens
full namesterol carrier protein 2
summaryThis 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]

NM_002979.5(SCP2):c.609A>G (p.Glu203=) AND not provided

NM_002979.5(SCP2):c.1235+30G>A AND not provided

NM_002979.5(SCP2):c.550dup (p.Ile184fs) AND Leukoencephalopathy with dystonia and motor neuropathy

NM_002979.5(SCP2):c.974-18C>T AND not provided

NM_002979.5(SCP2):c.1468+17C>A AND not provided

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