| Gene Symbol |
STOM
|
| Gene Synonyms |
BND7 EPB7 Epb7.2 EPB72 |
| Gene Full Name |
stomatin |
| Gene 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] |
| Alternative Names |
band 7.2b protein erythrocyte band 7 integral membrane protein erythrocyte membrane protein band 7.2 erythrocyte membrane protein band 7.2 (stomatin) erythrocyte protein band 7.2 erythrocyte protein band 7.2 protein 7.2b erythrocyte surface protein band 7.2 protein 7.2b STOM |
| Molecular Weight(MW) |
32kDa(observed:37kDa |
| Source |
Rabbit |
| Cellular Localization |
Cell membrane,Cytoplasm,Melanosome |