DISEASES

Disease-gene associations mined from literature

Literature associating SCG5 and hereditary mixed polyposis syndrome

SCG5 [ENSP00000300175]

Secretory granule endocrine protein I; Acts as a molecular chaperone for PCSK2/PC2, preventing its premature activation in the regulated secretory pathway. Binds to inactive PCSK2 in the endoplasmic reticulum and facilitates its transport from there to later compartments of the secretory pathway where it is proteolytically matured and activated. Also required for cleavage of PCSK2 but does not appear to be involved in its folding. Plays a role in regulating pituitary hormone secretion. The C-terminal peptide inhibits PCSK2 in vitro; Granins

Synonyms:  SCG5,  SCG5p,  hSCG5,  C9J650,  C9JNY7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM