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The official name of this gene is “chymotrypsin C (caldecrin).”
CTRC is the gene's official symbol. The CTRC gene is also known by other names, listed below.
This gene encodes a member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Regulates activation and degradation of trypsinogens and procarboxypeptidases by targeting specific cleavage sites within their zymogen precursors. Has chymotrypsin-type protease activity and hypocalcemic activity.
Pancreatitis, 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 variations 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).
|167800 (http://omim.org/entry/167800)||PANCREATITIS, HEREDITARY|
|601405 (http://omim.org/entry/601405)||CHYMOTRYPSIN C|
Cytogenetic Location: 1p36.21
Molecular Location on chromosome 1: base pairs 15,438,441 to 15,449,246
The CTRC gene is located on the short (p) arm of chromosome 1 at position 36.21.
More precisely, the CTRC gene is located from base pair 15,438,441 to base pair 15,449,246 on chromosome 1.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about CTRC helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
calcium ; catalytic ; degradation ; gene ; hereditary ; inflammation ; pancreas ; pancreatic ; pancreatitis ; protease ; protein ; secretion ; susceptibility ; transcript ; trypsin
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.