Stomatin

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Stomatin
Identifiers
Symbols STOM ; BND7; EPB7; EPB72
External IDs OMIM133090 MGI95403 HomoloGene81681 GeneCards: STOM Gene
RNA expression pattern
PBB GE STOM 201060 x at tn.png
PBB GE STOM 201061 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2040 13830
Ensembl ENSG00000148175 ENSMUSG00000026880
UniProt P27105 P54116
RefSeq (mRNA) NM_001270526 NM_013515
RefSeq (protein) NP_001257455 NP_038543
Location (UCSC) Chr 9:
124.1 – 124.13 Mb
Chr 2:
35.31 – 35.34 Mb
PubMed search [1] [2]

Stomatin also known as human erythrocyte integral membrane protein band 7 is a protein that in humans is encoded by the STOM gene.[1][2]

Clinical significance[edit]

Stomatin is a 31 kDa integral membrane protein, named after the rare human haemolytic anaemia hereditary stomatocytosis. 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.[2]

Function[edit]

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.[2]

Although the wide distribution of stomatin and its constitutive expression suggest an important role for this protein in cell biology, perhaps as a “house-keeping” component, its function remains undetermined. The massive presence of stomatin in membrane-protruding folds and extensions suggests a possible structural role for this protein in the formation of these structures and/or the anchorage to the actin cytoskeleton

References[edit]

  1. ^ Hiebl-Dirschmied CM, Entler B, Glotzmann C, Maurer-Fogy I, Stratowa C, Prohaska R (Oct 1991). "Cloning and nucleotide sequence of cDNA encoding human erythrocyte band 7 integral membrane protein". Biochim Biophys Acta 1090 (1): 123–4. doi:10.1016/0167-4781(91)90047-P. PMID 1883838. 
  2. ^ a b c "Entrez Gene: STOM stomatin". 

Further reading[edit]


This article incorporates text from the United States National Library of Medicine, which is in the public domain.