Relevance to Autism

Zaki et al., 2021 identified five distinct novel homozygous variants in the PIDD1 gene in six consanguineous families with affected individuals presenting with developmental delay, mild or moderate intellectual disability, behavioral and psychiatric features, and a typical anterior-predominant pachygyria; six and four subjects in this cohort met the diagnostic criteria for ADHD and autism spectrum disorder, respectively.

Molecular Function

The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis.

External Links

References