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Target intelligence / Profile preview
Spectrin alpha chain, erythrocytic 1 (SPTA1)
- Target
- SPTA1
- Molecular classification
- Cytoskeletal protein, Scaffold protein, Other
01
Overview
Spectrin alpha chain, erythrocytic 1 (SPTA1) is a principal cytoskeletal protein in red blood cells that forms a heterotetramer with beta spectrin, providing structural support for the erythrocyte membrane. It facilitates the connection between the plasma membrane and the actin cytoskeleton, contributing essentially to the shape, flexibility, and mechanical stability of erythrocytes. SPTA1 is made up of 22 spectrin repeats, yielding flexibility necessary for red blood cells to traverse capillaries. Defects or mutations in SPTA1 cause inherited red blood cell disorders such as hereditary elliptocytosis (elliptocytosis type 2), spherocytosis, and pyropoikilocytosis, characterized by defective cell morphology and varying degrees of hemolytic anemia[1][3][5][9]. SPTA1 is not currently recognized as a direct therapeutic target for small molecules or biologics.
- Other names
- SPTA1SPTAEL2HPPHS3spectrin alpha chain, erythrocytic 1alpha-I spectrinelliptocytosis 2erythroid alpha-spectrinspectrin alpha chain, erythrocyte
02
Biological functions
Maintenance of erythrocyte (red blood cell) shape and elasticityLinkage of plasma membrane to actin cytoskeletonOrganization of transmembrane proteinsPositioning of organelles
03
Disease associations
Hereditary elliptocytosisHereditary pyropoikilocytosisHereditary spherocytosisOther red blood cell membrane disorders
04
Safety considerations
Mutations cause structural instability of erythrocytes, leading to hemolytic anemiaNo known drug-targeting safety concerns due to lack of current pharmacologic targeting
05
Biomarkers
Mutation status in SPTA1 for diagnosis of hereditary elliptocytosis, pyropoikilocytosis, and hereditary spherocytosisSPTA1 protein levels or function as research biomarkers in red blood cell disorders
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