TMEM38B
Function
Intracellular monovalent cation channel required for maintenance of rapid intracellular calcium release. Acts as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores (By similarity). Activated by increased cytosolic Ca(2+) levels (By similarity).
Involvement in disease
Osteogenesis imperfecta 14
OI14
An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI14 is characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TMEM38 family.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
C9orf87, TRICB, TMEM38B, Trimeric intracellular cation channel type B, TRIC-B, Transmembrane protein 38B