TMEM38B gene

transmembrane protein 38B

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Oct 2012]

From UniProt:

Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores.

From NCBI Gene:

  • Osteogenesis imperfecta, type xiv

From UniProt:

Osteogenesis imperfecta 14 (OI14): An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder 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. [MIM:615066]

Cytogenetic Location: 9q31.2, which is the long (q) arm of chromosome 9 at position 31.2

Molecular Location: base pairs 105,694,525 to 105,776,611 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q31.2, which is the long (q) arm of chromosome 9 at position 31.2
  • bA219P18.1
  • C9orf87
  • D4Ertd89e
  • OI14
  • TRIC-B