Disease-gene associations mined from literature

Literature associating UBA6 and Johanson-Blizzard syndrome

UBA6 [ENSP00000313454]

Ubiquitin-activating enzyme E1-like protein 2; Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin- E1 thioester and free AMP. Specific for ubiquitin, does not activate ubiquitin-like peptides. Differs from UBE1 in its specificity for substrate E2 charging. Does not charge cell cycle E2s, such as CDC34. Essential for embryonic development. Required for UBD/FAT10 conjugation. Isoform 2 may play a key role in ubiquitin system and may influence spermatogenesis and male fertility; Ubiquitin like modifier activating enzymes

Synonyms:  UBA6,  UBA6p,  hUBA6,  A0A024RDB0,  A0AVT1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM