TMEM38B Antibody – Rabbit Polyclonal

Function: 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

By similarity.

Subunit structure: Homotrimer

By similarity.

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein

By similarity.

Domain: The second transmembrane domain has been proposed to cross only half of the lipid bilayer and to loop back into the cytosol, so that the domains on each side of this domain are both found on the cytosolic face of the membrane. The cytosolic loop may form an ion-conducting pore

By similarity.

Involvement in disease: Osteogenesis imperfecta 14 (OI14) [MIM:615066]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10

Sequence similarities: Belongs to the TMEM38 family.

Sequence caution: The sequence CAH71458.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI12390.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI12391.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI12392.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI39690.1 differs from that shown. Reason: Erroneous initiation. The sequence CAI39691.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI39692.1 differs from that shown. Reason: Erroneous gene model prediction.