Relevance to Autism

Two de novo loss-of-function variants in the USP15 gene have been identified in ASD probands from simplex families (a frameshift variant in a Simons Simplex Collection proband in O'Roak et al., 2012; and a splice-site variant in a proband from a cohort of 116 ASD parent-proband trios as part of the University of Illinois at Chicago ACE project in Chen et al., 2017).

Molecular Function

This gene encodes a member of the ubiquitin specific protease (USP) family of deubiquitinating enzymes. USP enzymes play critical roles in ubiquitin-dependent processes through polyubiquitin chain disassembly and hydrolysis of ubiquitin-substrate bonds. The encoded protein associates with the COP9 signalosome, and also plays a role in transforming growth factor beta signalling through deubiquitination of receptor-activated SMAD transcription factors.

External Links

References