DISEASES

Disease-gene associations mined from literature

Literature associating SCAP and malt worker's lung

SCAP [ENSP00000265565]

Sterol regulatory element-binding protein cleavage-activating protein; Escort protein required for cholesterol as well as lipid homeostasis. Regulates export of the SCAP/SREBF complex from the ER upon low cholesterol. Formation of a ternary complex with INSIG at high sterol concentrations leads to masking of an ER-export signal in SCAP and retention of the complex in the ER. Low sterol concentrations trigger release of INSIG, a conformational change in the SSC domain of SCAP, unmasking of the ER export signal, recruitment into COPII-coated vesicles, transport to the Golgi complex, proteolytic cleavage of SREBF in the Golgi, release of the transcription factor fragment of SREBF from the membrane, its import into the nucleus and up-regulation of LDLR, INSIG1 and the mevalonate pathway (By similarity).

Synonyms:  SCAP,  A0A0A0MTG6,  C9JFY0,  C9JQ35,  D6RA39 ...

Linkouts:  STRING  Pharos  UniProt  OMIM