DISEASES

Disease-gene associations mined from literature

Literature associating UBE3B and blepharophimosis

UBE3B [ENSP00000340596]

Ubiquitin-protein ligase E3B; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.

Synonyms:  UBE3B,  UBE3Bp,  hUBE3B,  A0A024RBI2,  F5H5T5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM