Aliases: CGI-69, CGI69
Chromosome No: 17
Chromosome Band: 17q21.31
Genetic Category: Rare single gene variant
ASD Reports: 3
Recent Reports: 1
Annotated variants: 12
Associated CNVs: 4
Evidence score: 2
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Relevance to Autism
A de novo frameshift variant in the SLC25A39 gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2012. Rare inherited loss-of-function and damaging missense variants in this gene were observed in ASD probands from the Simons Simplex Collection (Krumm et al., 2015) and in a cohort of Chinese ASD probands (Guo et al., 2017). Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of 536 Chinese ASD probands and 1457 Chinese controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified SLC25A39 as an ASD candidate gene with a PTADA of 0.002017.
Molecular Function
his gene encodes a member of the SLC25 transporter or mitochondrial carrier family of proteins. Members of this family are encoded by the nuclear genome while their protein products are usually embedded in the inner mitochondrial membrane and exhibit wide-ranging substrate specificity. Although the encoded protein is currently considered an orphan transporter, this protein is related to other carriers known to transport amino acids. This protein may play a role in iron homeostasis and be required for normal heme biosynthesis.
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