Relevance to Autism

A de novo frameshift variant in the SCP2 gene was identified in an ASD proband from the Simons Simplex Collection in Sanders et al., 2012. Targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls detected rare inherited loss-of-function and damaging missense variants in Chinese ASD probands in Guo et al., 2017. Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of Chinese ASD cases and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified SCP2 as an ASD candidate gene with a PTADA of 0.003421.

Molecular Function

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.

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