Relevance to Autism

"A total of seven de novo missense variants in the ABCA2 gene have been identified in ASD probands from the Simons Simplex Collection, the MSSNG cohort, the SPARK cohort, and a Qatari ASD cohort (Iossifov et al., 2014; Yuen et al., 2017; Zhou et al., 2022; Al-Sarraj et al., 2024). ABCA2 had previously been prioritized as a schizophrenia susceptibility gene in Wang et al., 2015 based on harboring a de novo damaging variant that was identified in a Chinese schizophrenia patient, being enriched for ""brain-critical exons"", being highly interconnected with other genes in a co-expression network of specific anatomical subregions of the prenatal frontal cortex and temporal-parietal regions, and being a highly constrained gene in which de novo variants would be unlikely to occur by chance in schizophrenia patients."

Molecular Function

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Homozygous variants in this gene are responsible for intellectual developmental disorder with poor growth and with or without seizures or ataxia (IDPOGSA; OMIM 618808), an autosomal recessive neurologic disorder characterized by global developmental delay apparent from infancy, hypotonia, and poor overall growth, sometimes with borderline microcephaly.

External Links

References