Stomatin also known as human erythrocyte integral membrane protein band 7 is a protein that in humans is encoded by the STOM gene. [5] [6]
Stomatin also known as human erythrocyte integral membrane protein band 7 is a protein that in humans is encoded by the STOM gene. [5] [6]
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. [6]
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. [6]
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.
Hereditary stomatocytosis describes a number of inherited, mostly autosomal dominant human conditions which affect the red blood cell and create the appearance of a slit-like area of central pallor (stomatocyte) among erythrocytes on peripheral blood smear. The erythrocytes' cell membranes may abnormally 'leak' sodium and/or potassium ions, causing abnormalities in cell volume. Hereditary stomatocytosis should be distinguished from acquired causes of stomatocytosis, including dilantin toxicity and alcoholism, as well as artifact from the process of preparing peripheral blood smears.
Protein 4.1,, is a protein associated with the cytoskeleton that in humans is encoded by the EPB41 gene. Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Protein 4.1 interacts with spectrin and short actin filaments to form the erythrocyte membrane skeleton. Mutations of spectrin and protein 4.1 are associated with elliptocytosis or spherocytosis and anemia of varying severity.
Erythrocyte membrane protein band 4.2 is a protein that in humans is encoded by the EPB42 gene. It is part of the red blood cell cytoskeleton.
Spectrin alpha chain, erythrocyte is a protein that in humans is encoded by the SPTA1 gene.
Peroxiredoxin-2 is a protein that in humans is encoded by the PRDX2 gene.
Flotillin-1 is a protein that in humans is encoded by the FLOT1 gene.
Plasma membrane calcium-transporting ATPase 2 is an enzyme that in humans is encoded by the ATP2B2 gene.
Flotillin-2 is a protein that in humans is encoded by the FLOT2 gene. Flotillin 2 (flot-2) is a highly conserved protein isolated from caveolae/lipid raft domains that tether growth factor receptors linked to signal transduction pathways. Flot-2 binds to PAR-1, a known upstream mediator of major signal transduction pathways implicated in cell growth and metastasis, and may influence tumour progression.
Hyaluronan synthase 1 is an enzyme that in humans is encoded by the HAS1 gene.
Lathosterol oxidase is a Δ7-sterol 5(6)-desaturase enzyme that in humans is encoded by the SC5D gene.
Anion exchange protein 3 is a membrane transport protein that in humans is encoded by the SLC4A3 gene. AE3 is functionally similar to the Band 3 Cl−/HCO3− exchange protein but it is expressed primarily in brain neurons and in the heart. Like AE2 its activity is sensitive to pH. AE3 mutations have been linked to seizures.
Stomatin-like protein 2 is a protein that in humans is encoded by the STOML2 gene.
Uroplakin-1b (UP1b), is a protein which in humans is encoded by the UPK1B gene.
Lactosylceramide alpha-2,3-sialyltransferase is an enzyme that in humans is encoded by the ST3GAL5 gene.
Uroplakin-1a (UP1a) is a protein that in humans is encoded by the UPK1A gene.
Plasma membrane calcium-transporting ATPase 3(PMCA3) is an enzyme that in humans is encoded by the ATP2B3 gene.
60S ribosomal protein L18 is a protein that in humans is encoded by the RPL18 gene.
Sodium/potassium-transporting ATPase subunit beta-3 is an enzyme that in humans is encoded by the ATP1B3 gene. ATP1B3 has also been designated as CD298.
Lamin-B1 is a protein that in humans is encoded by the LMNB1 gene.
Ankyrin 1, also known as ANK-1, and erythrocyte ankyrin, is a protein that in humans is encoded by the ANK1 gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.