基因名:
STOM
产品别名:
BND7; EPB7; EPB72; STOM; stomatin; stomatin; stomatin; erythrocyte band 7 integral membrane protein; erythrocyte membrane protein band 7.2 (stomatin); erythrocyte surface protein band 7.2; protein 7.2b; 红细胞膜蛋白STOM;
背景信息:
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.