Relevance to Autism

A recurrent maternally-inherited missense variant in the PJA1 gene (p.Arg376Cys) that was experimentally shown to result in reduced protein levels was identified in seven Japanese male patients from five unrelated families presenting with neurodevelopmental disorders and trigonocephaly in Suzuki et al., 2020; four of these patients were diagnosed with autism spectrum disorder, while two others presented with autistic traits.

Molecular Function

This gene encodes an enzyme that has E2-dependent E3 ubiquitin-protein ligase activity. This enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with the E2 ubiquitin-conjugating enzyme UbcH5B. This gene is located in an area of chromosome X where several X-linked cognitive disability disorders have been associated, and it has also been found as part of a contiguous gene deletion associated with craniofrontonasal syndrome, though a direct link to any disorder has yet to be demonstrated.

External Links

References