Aliases for STOM Gene
External Ids for STOM Gene
Previous HGNC Symbols for STOM Gene
Previous GeneCards Identifiers for STOM Gene
This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
GeneCards Summary for STOM Gene
STOM (Stomatin) is a Protein Coding gene. Diseases associated with STOM include Stomatocytosis I and Pseudohyperkalemia Cardiff. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Innate Immune System. GO annotations related to this gene include protein homodimerization activity and RNA polymerase binding. An important paralog of this gene is STOML3.
UniProtKB/Swiss-Prot for STOM Gene
Regulates ion channel activity and transmembrane ion transport. Regulates ASIC2 and ASIC3 channel activity.