DISEASES

Disease-gene associations mined from literature

Literature associating TRPA1 and spondyloepiphyseal dysplasia Maroteaux type

TRPA1 [ENSP00000262209]

Transient receptor potential cation channel subfamily A member 1; Receptor-activated non-selective cation channel involved in pain detection and possibly also in cold perception, oxygen concentration perception, cough, itch, and inner ear function . Shows 8-fold preference for divalent over monovalent cations . Has a central role in the pain response to endogenous inflammatory mediators and to a diverse array of irritants, such as allylthiocyanate (AITC) from mustard oil or wasabi, cinnamaldehyde, diallyl disulfide (DADS) from garlic, and acrolein, an irritant from tears gas and vehicule exhaust fumes (PubMed:25389312, PubMed:27241698, PubMed:30878828, PubMed:20547126). Acts also as an ionotropic cannabinoid receptor by being activated by delta(9)- tetrahydrocannabinol (THC), the psychoactive component of marijuana . Is activated by a large variety of structurally unrelated electrophilic and non-electrophilic chemical compounds. Electrophilic ligands activate TRPA1 by interacting with critical N- terminal Cys residues in a covalent manner, whereas mechanisms of non- electrophilic ligands are not well determined. May be a component for the mechanosensitive transduction channel of hair cells in inner ear, thereby participating in the perception of sounds. Probably operated by a phosphatidylinositol second messenger system (By similarity). ECO:0000269|PubMed:21873995, ECO:0000269|PubMed:25389312, ECO:0000269|PubMed:25855297, ECO:0000269|PubMed:27241698, ECO:0000269|PubMed:30878828, ECO:0000269|PubMed:31447178,; Belongs to the transient receptor (TC 1.A.4) family.

Synonyms:  TRPA1,  TRPA1p,  hTRPA1,  H0YAW0,  O75762 ...

Linkouts:  STRING  Pharos  UniProt  OMIM