alpha 1 Spectrin Rabbit Polyclonal Antibody

Function

Spectrin alpha chain, erythrocyte is a protein that in humans is encoded by the SPTA1 gene. Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia.

Background References

1. Fortugno C et al. Hereditary red blood cell membrane defects. Detection of PIEZO1 mutations associated with SPTA1 mutations. An unusual clinical case of hereditary xerocytosis. Pediatr Hematol Oncol. 2021 Mar

2. Chonat S et al. The Spectrum of SPTA1-Associated Hereditary Spherocytosis. Front Physiol. 2019 Jul

Subcellular Location

Cytoplasm, Cytoskeleton.

UNIPROT

SwissProt: P02549 Human

SwissProt: P08032 Mouse

Synonyms