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Beschreibung

Ubiquitin-conjugating enzyme E2 A (UniProt: P49459, also known as EC 2.3.2.23, E2 ubiquitin-conjugating enzyme A, RAD6 homolog A, HR6A, hHR6A, Ubiquitin carrier protein A, Ubiquitin-protein ligase A) is encoded by the UBE2A (also known as RAD6A) gene (GeneID: 7319) in human. UBE2A belongs to the ubiquitin-conjugating enzyme family and accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1, it plays a role in transcription regulation by catalyzing the mono-ubiquitination of histone H2B at Lys-120 that provides a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, and telomeric silencing. It is also a prerequisite for H3K4me and H3K79me formation. Defects in UBE2A gene have been linked to mental retardation, X-linked, syndromic, Nascimento-type mental retardation that is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior.