Literature associating MBTPS2 and hair disease
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 ...