STOM, Official Symbol STOMprovided by HGNC Official Full Name stomatinprovided by HGNC Primary source HGNC:HGNC:3383 See related Ensembl:ENSG00000148175 MIM:133090; AllianceGenome:HGNC:3383 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BND7; EPB7; EPB72 Summary 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] Expression Ubiquitous expression in fat (RPKM 161.3), bone marrow (RPKM 127.5) and 23 other tissues See more Orthologs mouse all