HUWE1


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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.
References in periodicals archive ?
Stage 1 bladder Stage 4 bladder cancer cancer The highly expressed ADRM1, COPS5, PSMD8, ADRM1, COPS5, PSMD8, genes for potential SUMO2, CALR, PDIA3, SUMO2, RNF126, CALR, inhibition strategy DNAJB11, HSPA5, RPN1, PDIA3, DNAJB11, of multiple drug CUL1, HSP90B1, KPNA2, HSPA5, RPN1, design PSMD12, ECT2, TK1, HSP90AA1, HSPA1B, TUBA1C, HN1, and ENO1 METTL23, RARRES3, KPNA2, PSMD12, ECT2, JUN, TK1, TUBA1C, HN1, and ENO1 The suppressed genes UBC, JUN, RARRES3, BCL3, FOS, UBC, and for potential and FOS GTF2A1 activation strategy of multiple drug design The BAG6, HUWE1, PAAF1, BAG6, HUWE1, PAAF1, nondifferentially PSMD10, FAF2, PCYT1A, PSMD10, FAF2, PCYT1A, expressed genes to and PSMD10 and PSMD10 avoid side-effect of multiple drug design The potential multiple drug combination
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.