DISEASES

Disease-gene associations mined from literature

Literature associating UBA2 and Townes-Brocks syndrome

UBA2 [ENSP00000246548]

Ubiquitin-like modifier activating enzyme 2; The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2; Ubiquitin like modifier activating enzymes

Synonyms:  UBA2,  UBA2p,  hUBA2,  B3KWB9,  K7EPL2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM