Gene Symbol | UBE2A |
Entrez Gene ID | 7319 |
Full Name | ubiquitin conjugating enzyme E2 A |
Synonyms | HHR6A,MRXS30,MRXSN,RAD6A,UBC2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair, and may play a role in transcriptional regulation. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3) |