Relevance to Autism

De novo missense variants in the ABCA13 gene have been identified in ASD probands in whole-exome sequencing studies (Neale et al., 2012; Iossifov et al., 2012; De Rubeis et al., 2014). A heterozygous deletion disrupting the ABCA13 gene was identified in a Japanese macaque that spontaneously displayed autistic traits such as impaired social ability and restricted and repetitive behaviors; no CNVs affecting ABCA13 were observed in a control group of 335 Japanese macaques (Yoshida et al., 2016). Pan-neuron-specific knockdown of a gene in Drosophila that shows high homology to human ABCA genes, including ABCA13, resulted in impaired social interactions and early onset of evening activity in adult flies, as well as an increase in satellite boutons in presynaptic terminals of motor neurons in third instar larvae (Ueoka et al., 2017).

Molecular Function

In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins.

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References