Entity Details

Primary name CTRC
Entity type gene
Source Source Link

Details

PrimaryID11330
RefseqGeneNG_009253
SymbolCTRC
Namechymotrypsin C
Chromosome1
Location1p36.21
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-06-08
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsCTRC_HUMAN

GO terms

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GOName
GO:0004252 serine-type endopeptidase activity
GO:0005576 extracellular region
GO:0006508 proteolysis
GO:0006874 cellular calcium ion homeostasis
GO:0008233 peptidase activity
GO:0009235 cobalamin metabolic process

Diseases

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Disease IDSourceNameDescription
167800 OMIMPancreatitis, hereditary (PCTT)A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks. Disease susceptibility is associated with variants affecting the gene represented in this entry. Loss-of-function CTRC variants predispose to pancreatitis by diminishing its protective trypsin-degrading activity (PubMed:18059268). They cause loss of function by one or more of three mechanisms: reduced secretion, catalytic defect and increased degradation by trypsin (PubMed:22942235).