SPTA1

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.

Spectrin Alpha, Erythrocytic 1

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.

Biological Process actin cytoskeleton organizationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process actin filament cappingIEA:UniProtKB-KW
Biological Process actin filament organizationManual Assertion Based On ExperimentTAS:ProtInc
Biological Process hemopoiesisIEA:Ensembl
Biological Process lymphocyte homeostasisIEA:Ensembl
Biological Process plasma membrane organizationIEA:Ensembl
Biological Process porphyrin-containing compound biosynthetic processIEA:Ensembl
Biological Process positive regulation of protein bindingIEA:Ensembl
Biological Process positive regulation of T cell proliferationIEA:Ensembl
Biological Process regulation of cell shapeIEA:UniProtKB-KW

Cytoplasm, cytoskeleton
Cytoplasm, cell cortex

Elliptocytosis 2 (EL2):
A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.
Hereditary pyropoikilocytosis (HPP):
Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.
Spherocytosis 3 (SPH3):
Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive.