Recombinant Human Spectrin alpha chain, erythrocytic 1 (SPTA1), Truncated

Uniprot Id

P02549

Target Species

Human

Target Name

SPTA1

Target Full Name

Spectrin alpha chain, erythrocytic 1

Target Function

Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.

Target Involvement

Elliptocytosis 2 (EL2); Hereditary pyropoikilocytosis (HPP); Spherocytosis 3 (SPH3)

Target Subcellular Location

Cytoplasm, cytoskeleton. Cytoplasm, cell cortex.

Target Protein Families

Spectrin family

Target Research Area

Actin capping, Actin-binding

Target Synonyms

Alpha I spectrin; EL 2; EL2; Elliptocytosis 2; Elliptocytosis2; Erythrocyte alpha spectrin; erythrocyte; Erythroid alpha spectrin; Erythroid alpha-spectrin; Erythroid spectrin alpha; HPP; HS3; Spectrin alpha chain; Spectrin alpha chain erythrocyte; Spectrin alpha erythrocytic 1; SPH3; SPTA 1; SPTA; SPTA1; SPTA1_HUMAN

Target Background

This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3.