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]
UBE2A has been shown to interact with RAD18, [7] [8] UBR4 [9] and P53. [10]
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]