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TMEM38B encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Zusätzlich bieten wir Ihnen Transmembrane Protein 38B Antikörper (21) und viele weitere Produktgruppen zu diesem Protein an.
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TMEM38B mutations could lead to a rare form of OI, with an autosomal recessive pattern of inheritance. We identified two novel mutations (c.455-7T>G in intron 3 and c.507G>A in exon 4) in TMEM38B in three Chinese children with OI. The two mutations created a new acceptor splice site (p.R151_G152insVL) and a novel downstream termination codon (p.W169X), respectively
Absence of TMEM38B causes osteogenesis imperfecta (zeige COL1A2 Proteine) by dysregulation of calcium flux kinetics in the endoplasmic reticulum, impacting multiple collagen-specific chaperones and modifying enzymes.
A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta (zeige COL1A2 Proteine).
TMEM38B is a novel candidate gene for autosomal recessive Osteogenesis imperfecta (zeige COL1A2 Proteine) (OI). Future studies are needed to explore fully the contribution of this gene to autosomal recessive Osteogenesis imperfecta (zeige COL1A2 Proteine) (OI) in other populations.
This mini-review focuses on the essential role of TRIC-B channels in bone ossification.
Study found that a simplified, linear, six-state gating model best encompasses the complexity of the subconductance gating behavior of TRIC-B channels
Rapid transitions between TRIC-B sub-conductance states prevented development of reliable gating models.
TRIC-A (zeige TMEM38A Proteine) and TRIC-B seem to have differential functions in Ca(2 (zeige CA2 Proteine)+) signaling in excitable and nonexcitable cells.
TRIC (zeige MARVELD2 Proteine) channels are likely to act as counter-ion channels that function in synchronization with Ca2 (zeige CA2 Proteine)+ release from intracellular stores
TRIC-B-knockout neonates were cyanotic owing to respiratory failure and died shortly after birth. In mutant neonates, the deflated lungs exhibited severe histological defects, and alveolar type II epithelial cells displayed ultrastructural abnormalities.
This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis.
, trimeric intracellular cation channel type B
, transmembrane protein 38B
, trimeric intracellular cation channel type B-B
, transmembrane protein 38B-B
, trimeric intracellular cation channel type B-like