Disease-gene associations mined from literature

Literature associating MBTPS2 and hair disease

MBTPS2 [ENSP00000368798]

Membrane-bound transcription factor site-2 protease; Involved in regulated intramembrane proteolysis (RIP) that is the cleavage of membrane-spanning regulatory proteins by proteases within the plane of the membrane. It cleaves 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. Mature N-terminal fragments shuttle to the nucleus and activate gene transcription (PubMed:9659902, PubMed:27380894). Involved in RIP-mediated regulation of bone formation .

Synonyms:  MBTPS2,  MBTPS2p,  hMBTPS2,  B9ZVQ3,  O43462 ...

Linkouts:  STRING  Pharos  UniProt  OMIM