Aliases for TMEM38B Gene
External Ids for TMEM38B Gene
Previous HGNC Symbols for TMEM38B Gene
Previous GeneCards Identifiers for TMEM38B 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]
GeneCards Summary for TMEM38B Gene
TMEM38B (Transmembrane Protein 38B) is a Protein Coding gene. Diseases associated with TMEM38B include Osteogenesis Imperfecta, Type Xiv and Osteogenesis Imperfecta, Type Iv. Gene Ontology (GO) annotations related to this gene include potassium channel activity and cation channel activity. An important paralog of this gene is TMEM38A.
UniProtKB/Swiss-Prot Summary for TMEM38B Gene
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.