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Genetics Home Reference: your guide to understanding genetic conditions
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CTRC

The information on this page was automatically extracted from online scientific databases.

What is the official name of the CTRC gene?

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.

What is the normal function of the CTRC gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/11330):

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]

From UniProt (http://www.uniprot.org/uniprot/Q99895):

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.

How are changes in the CTRC gene related to health conditions?

Genetics Home Reference provides information about hereditary pancreatitis, which is associated with changes in the CTRC gene.
UniProt (http://www.uniprot.org/uniprot/Q99895) provides the following information about the CTRC gene's known or predicted involvement in human disease.

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).

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/11330) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CTRC gene.
  • Hereditary pancreatitis
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the CTRC gene and its association with health conditions.
OMIM
Number
Title

Where is the CTRC gene located?

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.

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.

Where can I find additional information about CTRC?

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.

What other names do people use for the CTRC gene or gene products?

  • CLCR
  • ELA4

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding CTRC?

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.

 
Published: July 6, 2015