HUWE1


Also found in: Dictionary, Thesaurus, Encyclopedia.
Related to HUWE1: MCL1, PubMed

HUWE1

A 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.

Molecular pathology
Defects in HUWE1 cause mental retardation, X-linked, syndromic Turner type (MXRST) and mental retardation, X-linked, type 17/31.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Through additional research, including the DNA of 6 additional families from Europe, Australia and South Africa, we now know that HUWE1 is the crucial factor, and that a concentration increase of HUWE1 leads to intellectual disability," said Froyen.
Scientists now hope to develop a treatment to counteract the effects of too much HUWE1 protein.
The receptor ADRM1 signal triggers the signaling cascade from the smoking-related protein HUWE1 to the aging-related proteins HSP90B1 and RPS20 and the smoking-related TF COPS5.