DISEASES

Disease-gene associations mined from literature

Literature associating TMEM100 and familial episodic pain syndrome

TMEM100 [ENSP00000465638]

Transmembrane protein 100; Plays a role during embryonic arterial endothelium differentiation and vascular morphogenesis through the ACVRL1 receptor- dependent signaling pathway upon stimulation by bone morphogenetic proteins, such as GDF2/BMP9 and BMP10. Involved in the regulation of nociception, acting as a modulator of the interaction between TRPA1 and TRPV1, two molecular sensors and mediators of pain signals in dorsal root ganglia (DRG) neurons. Mechanistically, it weakens their interaction, thereby releasing the inhibition of TRPA1 by TRPV1 and increasing the single-channel open probability of the TRPA1-TRPV1 complex.

Synonyms:  TMEM100,  TMEM100p,  hTMEM100,  A0A0A0MTR3,  Q9NV29 ...

Linkouts:  STRING  Pharos  UniProt