Disease-gene associations mined from literature

Literature associating MBTPS1 and ichthyosis follicularis-alopecia-photophobia syndrome

MBTPS1 [ENSP00000344223]

Membrane-bound transcription factor peptidase, site 1; Serine protease that catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs). Other known substrates are BDNF, GNPTAB and ATF6. Cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4. Cleaves known substrates after Arg- Ser-Val-Leu (SERBP-2), Arg-His-Leu-Leu (ATF6), Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu. Mediates the protein cleavage of GNPTAB into subunit alpha and beta, thereby participating in biogenesis of lysosomes; Belongs to the peptidase S8 family.

Synonyms:  MBTPS1,  MBTPS1p,  hMBTPS1,  H3BV53,  Q14703 ...

Linkouts:  STRING  Pharos  UniProt  OMIM