HUWE1(redirected from KIAA0312)
HUWE1A gene on chromosome Xp11.22 that encodes E3 ubiquitin-protein ligase, which mediates ubiquitination and proteasomal degradation of target proteins. HUWE1 regulates apoptosis by catalysing the polyubiquitination and degradation of MCL1. It also plays a role in base-excision repair and in regulating neural differentiation and proliferation by polyubiquitination and degradation of MYCN. It may also regulate concentration of CDC6 after DNA damage by targeting it for degradation.
Defects in HUWE1 cause mental retardation, X-linked, syndromic Turner type (MXRST) and mental retardation, X-linked, type 17/31.