DISEASES

Disease-gene associations mined from literature

Literature on RHBDL2

RHBDL2 [ENSP00000289248]

Rhomboid-related protein 2, C-terminal fragment; Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Known substrate: EFNB3; Belongs to the peptidase S54 family.

Synonyms:  RHBDL2,  RHBDL2p,  hRHBDL2,  Q9NX52,  Q9NX52p ...

Linkouts:  STRING  Pharos  UniProt  OMIM