UBE2A
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Ubiquitin-conjugating enzyme E2 A is a protein that in humans is encoded by the UBE2A gene.[5][6]
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. This gene encodes 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.[6]
Interactions
Clinical
Mutations in this gene have been associated with X-linked intellectual disability type Nascimento,[11] also known as Nascimento syndrome.[12] This syndrome is characterized by moderate to severe intellectual disability, dysmorphic facial features, seizures, speech impairment, motor delay, micropenis, and skin abnormalities.[11]
