STOM gene

stomatin

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Regulates ion channel activity and transmembrane ion transport. Regulates ASIC2 and ASIC3 channel activity.

Cytogenetic Location: 9q34.1, which is the long (q) arm of chromosome 9 at position 34.1

Molecular Location: base pairs 121,338,988 to 121,370,304 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q34.1, which is the long (q) arm of chromosome 9 at position 34.1
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