DISEASES

Disease-gene associations mined from literature

Literature associating MBTPS2 and tyrosinemia type II

MBTPS2 [ENSP00000368798]

Sterol regulatory element-binding proteins intramembrane protease; Intramembrane proteolysis of sterol-regulatory element- binding proteins (SREBPs) within the first transmembrane segment thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Site-2 cleavage comes after site-1 cleavage which takes place in the lumenal loop; Belongs to the peptidase M50A family.

Synonyms:  MBTPS2,  MBTPS2p,  hMBTPS2,  B9ZVQ3,  MBTPS2-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM