Relevance to Autism

A de novo missense variant in HUWE1 was identified in a male ASD proband, but not in the proband's less severely affected brother (Nava et al., 2012).

Molecular Function

E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Regulates neural differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN. Defects in HUWE1 are the cause of mental retardation syndromic X-linked Turner type (MRXST) [MIM:300706], also known as mental retardation and macrocephaly syndrome. MRXST shows clinical variability, and associated phenotypes include macrocephaly and variable contractures. A chromosomal microduplication involving HUWE1 and HSD17B10 is the cause of mental retardation X-linked type 17 (MRX17) [MIM:300705]; also known as mental retardation X-linked type 31 (MRX31).

External Links

References