DISEASES

Disease-gene associations mined from literature

Literature associating UBR7 and Johanson-Blizzard syndrome

UBR7 [ENSP00000013070]

Ubiquitin protein ligase E3 component n-recognin 7 (putative); E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation.

Synonyms:  UBR7,  UBR7p,  hUBR7,  G3V253,  G3V2G3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM