Ubiquitin Conjugating Enzyme E2A (UBE2A)

UBC2; HHR6A; RAD6 Homolog; Ubiquitin carrier protein A; Ubiquitin-protein ligase A

SPN	V749
HGNC	12472
MGI	102959
PubMed	21108393
RGD	1359534
UniProt	P49459
Wiki	UBE2A

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, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s.

As deduced from the pleiotropic phenotype of rad6 deletion mutants in Saccharomyces cerevisiae, the RAD6 protein plays an important role in various cellular processes. The protein is strongly conserved in eukaryotic evolution,UBE2A is a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Multiple alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms.

Reference

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"Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome."
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