Relevance to Autism

Choi et al., 2018 demonstrated that knockdown of the TAFA2 gene (referred to as SAM2 in the report and formerly known as the FAM19A2 gene) in both zebrafish and mice resulted in inceased anxiety. In the same report, TAFA2 was implicated as a candidate gene responsible for the phenotypes associated with deletions and duplications affecting the 12q14.1 locus, including autism and intellectual disability; one such deletion was found to segregate with intellectual disability in a three-generation pedigree in which the male proband was also diagnosed with ASD.

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