Relevance to Autism

Investigation of adipose tissue development as a pathophysiological marker of autism spectrum disorder by examining the serum levels of adipokines and other metabolic markers in 123 Japanese children with ASD and 92 typically developing Japanese children in Maekawa et al., 2020 found that FABP4 protein levels were significantly lower in ASD children than in typically developing subjects at preschool age (4-6 years old, 21 ASD cases and 26 typically developing controls). Furthermore, resequencing the exons of the FABP4 gene in a Japanese cohort comprising 659 ASD cases and 1000 control samples in this report led to the identification of two rare functional variants in the ASD group, including a nonsense variant transmitted to the proband from a mother with a history of depression, while disruption of the Fabp4 gene in mice evoked ASD-like behavioral phenotypes and increased spine density on apical dendrites of pyramidal neurons, which has been observed in post-mortem brains from ASD subjects. A rare de novo missense variant in the FABP4 gene had previously been identifed in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014).

Molecular Function

FABP4 encodes the fatty acid binding protein found in adipocytes. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism.

External Links

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