Trimeric intracellular cation-selective channel B (TMEM38B)

Trimeric intracellular cation-selective channel B (TMEM38B) encodes a transmembrane ion channel located in the endoplasmic reticulum membrane and is essential for the regulated release of calcium from ER stores. TMEM38B functions as a monovalent cation channel permeable to Na⁺ and K⁺, but not Ca²⁺, and counterbalances inositol trisphosphate (IP₃)-mediated Ca²⁺ release, supporting calcium signaling in diverse cell types. Mutations in TMEM38B disrupt ER calcium homeostasis, particularly affecting osteoblast function and type I collagen biosynthesis; these defects cause a recessive form of osteogenesis imperfecta (“brittle bone disease”) characterized by impaired bone strength and collagen matrix organization[1][2][3][4][5][6]. TMEM38B is widely expressed, and its function is central to maintaining ER ion balance and proper protein synthesis, especially in bone-forming tissues. No direct drugs currently target this molecule, but its gene mutations serve as a biomarker for diagnosis of certain collagen-related skeletal disorders.

Other names

Trimeric intracellular cation channel type BTMEM38BC9orf87TRICBTRIC-BFLJ10493bA219P18.1D4Ertd89eOI14

No targeted drugs; theoretical approaches might involve modulation of ER ion homeostasis or calcium signaling, but no established mechanisms for drug therapies targeting TMEM38B