XB-GENEPAGE-1005104
???displayGene.symbol???:
serpinh1
???displayGene.name???:
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
???displayGene.synonyms???
astp3
,
cbp1
,
cbp2
,
gp46
,
hsp47
,
pig14
[+]
(
Nomenclature history )
???displayGene.geneFunction???
Serpin
AI Protein Function
:
serpinh1 encodes heat‑shock protein 47, an endoplasmic reticulum‑resident molecular chaperone that binds collagens, assists proper folding and triple‑helix formation, and facilitates secretion of matur...[+]
???displayGene.geneInteractants???
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Diseases:
Disease Ontology:
osteogenesis imperfecta type 3
MIM:
PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM
External Links:
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