stomatin

EPB7

EPB72

BND7

erythrocyte membrane protein band 7.2 (stomatin)

Stomatin

Erythrocyte band 7 integral membrane protein

Erythrocyte membrane protein band 7.2

Protein 7.2b

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].

Varaico: Literature-Extracted Genetic Variants

STOM

RefSeq Summary

Pfam Domains

Gene Aliases

HGNC Name

HGNC Previous Symbols