SPTA1

Also known as EL2, HPP, HS3, SPH3, SPTA, Spectrin, alpha 1, spectrin alpha, erythrocytic 1

protein-coding gene in the species Homo sapiens

Gene data

SPTA1

Name: spectrin alpha, erythrocytic 1
Type: protein-coding
Aliases: EL2, HPP, HS3, SPH3, SPTA

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. [provided by RefSeq, Aug 2017].

via MyGene.info