CTHRC1 gene

collagen triple helix repeat containing 1

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

From NCBI Gene:

This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

From UniProt:

May act as a negative regulator of collagen matrix deposition.

From NCBI Gene:

  • Barrett's esophagus

From UniProt:

Barrett esophagus (BE): A condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes. [MIM:614266]

Cytogenetic Location: 8q22.3, which is the long (q) arm of chromosome 8 at position 22.3

Molecular Location: base pairs 103,371,515 to 103,383,005 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8q22.3, which is the long (q) arm of chromosome 8 at position 22.3