" /> Solute carrier family 4 (anion exchanger), member 1 - CISMeF





Preferred Label : Solute carrier family 4 (anion exchanger), member 1;

Symbol : SLC4A1;

CISMeF acronym : AE1; BND3; EMPB3; EPB3; SLC4A1;

Type : Gene and phenotype, combined;

Alternative titles and symbols : Band 3 of red cell membrane; Erythrocyte membrane protein band 3; Erythroid protein band 3; Anion exchange protein 1; BND3; EMPB3; EPB3; AE1;

Included titles and symbols : Acanthocytosis, one form of;

Description : Band 3 is the major glycoprotein of the erythrocyte membrane. It mediates exchange of chloride and bicarbonate across the phospholipid bilayer and plays a central role in respiration of carbon dioxide. It is a 93,000-Da protein composed of 2 distinct domains that function independently. The 50,000-Da C-terminal polypeptide codes for the transmembrane domain that is involved in anion transport. The 43,000-Da cytoplasmic domain anchors the membrane cytoskeleton to the membrane through an ankyrin-binding site (band 2.1) and also contains binding sites for hemoglobin and several glycolytic enzymes. Proteins related to red cell band 3 have been identified in several types of nucleated somatic cells (reviewed by Palumbo et al., 1986).;

Inheritance : Autosomal dominant (17q21-q22);

Prefixed ID : 109270;

Details


Keyword's position in hierarchy(ies) : arborescence

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15/05/2024


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