Relevance to Autism

Mice that were deficient for TAFA3 (called SAM3 in this report and formerly known as FAM19A3) displayed impaired responses to social novelty and defects in social communication; furthermore, male knockout mice also exhibited increased repetitive behaviors and increased anxiety (Kim et al., 2017). A de novo multigenic deletion at the 1p13.2 locus that included the TAFA3 gene was identified in an ASD proband from the Simons Simplex Collection in Krumm et al., 2013.

Molecular Function

This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells.

External Links

References