TMEM38B explained

Trimeric intracellular cation-selective channel B (TRIC-B) is a monovalent cation channel in the ER membrane encoded by the transmembrane protein 38B (TMEM38B) gene.[1] [2] It is one of two known TRIC proteins, the other being TRIC-A.

Function

TRIC-B is permeable to both Na+ and K+ but not divalent cations like Ca2+. The channel exhibits marked voltage-dependence, becoming more open when the cytosol is more positively charged than the ER lumen. There at least four major sub-conductance states (with 80%, 60%, 46% and 30% of the conductance of the fully-opened channel). TMEM38B-knockout mice exhibit reduced IP3-receptor-mediated Ca2+ release. As such, K+ flux into the ER through TRIC-B is thought to support IP3-induced efflux of Ca2+ ions through IP3-gated Ca2+ channels in the ER membrane.

Clinical significance

Null mutations in TMEM38B reduce the levels of functional TRIC-B in heterozygotes and abolish expression of functional TRIC-B in homozygotes. Such mutations are an uncommon but relatively severe cause of autosomal recessive osteogenesis imperfecta or "brittle bone disease".

See also

Notes and References

  1. Elisa. Venturi. Rebecca . Sitsapesan . Rebecca Sitsapesan . Daiju . Yamazaki . Hiroshi . Takeshima . TRIC channels supporting efficient Ca2+ release from intracellular stores . European Journal of Physiology. 465. 187–195 . 15 December 2012. 2. 10.1007/s00424-012-1197-5. 23242030. 14397400.
  2. Wayne A. . Cabral . Masaki . Ishikawa. Matthias . Garten. Elena N. . Makareeva. Brandi M. . Sargent. MaryAnn . Weis. Aileen M. . Barnes. Emma A. . Webb. Nicholas J. . Shaw. Leena . Ala-Kokko. Felicitas L. . Lacbawan. Wolfgang . Högler. Sergey . Leikin. Paul S. . Blank. Joshua . Zimmerberg. David R. . Eyre. Yoshihiko . Yamada. Joan C. . Marini . Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta . 10.1371/journal.pgen.1006156 . 21 July 2016 . PLOS Genetics . 12 . 7. e1006156 . 27441836 . 4956114 . free .