This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic mental retardation. [provided by RefSeq, Aug 2013]
Pathway
Adaptive Immune System; Antigen processing: Ubiquitination and Proteasome degradation; Class I MHC mediated antigen processing and presentation; Immune System; Ubiquitin mediated proteolysis; Validated targets of C-MYC transcriptional activation; p53 pathway
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