Full name: ubiquitin conjugating enzyme E2 A

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: HHR6A; MRXS30; MRXSN; RAD6A; UBC2

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]

Expression: Ubiquitous expression in placenta (RPKM 31.4), colon (RPKM 30.1) and 25 other tissues

Gene size: 9861bp

Exon count: 6