Transient Receptor Potential Cation Channel, Subfamily A, Member 1

Alternative Names

  • TRPA1
  • Ankyrin-Like Protein with Transmembrane Domains 1
  • ANKTM1
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OMIM Number

604775

Gene Map Locus
8q21.11

Description

TRPA1 is an excitatory ion channel that belongs to the transient receptor potential (TRP) superfamily.  A key role of the channel is in pain perception.  It is believed to be involved in the transduction machinery through which volatile external irritants and endogenous inflammatory mediators depolarize nociceptors to elicit pain.  TRPA1 has also been speculated to be engaged in cold nociception and inner ear function.

The gene has been implicated in familial episodic pain syndrome, a disorder characterized by debilitating upper body pain brought on by triggers such as cold, fasting or physical stress.  Other symptoms include breathing difficulties, tachycardia, peribuccal cyanosis, and stiffness of the abdominal wall.  Recent studies have also linked the gene to cardiovascular disease and changes in blood pressure. 

Molecular Genetics

The approximately 70 kb long TRPA1 gene is located on the long arm of chromosome 8.  The coding region of the gene consists of 29 exons.  It encodes a protein product that is made up of 1119 amino acids and is about 127 kDA in size.  Familial episodic pain syndrome is caused by a heterozygous c.2564A>G transition in exon 22 of the gene resulting in a p.Asn855Ser substitution in the S4 transmembrane segment of the TRPA1 protein.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Wakil et al. (2016) researched the association between gene loci and Coronary Artery Disease (CAD)/Myocardial Infarction (MI) in ethnic Saudi Arabs.  A genome wide association study was carried out using 2668 cases and 3000 controls.  The individuals were all tested for CAD/MI using coronary angiography and echocardiography. Statistical analysis was carried out to identify loci that had significant (p< 5x10-8) or suggestive (p< 1x10-5) associations with the disease.  The gene TRPA1 carried a SNP rs12541758_T that showed a suggestive association with CAD [p=3.87E-07, OR=1.25(1.15-1.36)]. 

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