SPTA1 Antibody – Rabbit Polyclonal

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]

SPTA1: 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. Defects in SPTA1 are the cause of elliptocytosis type 2 (EL2). EL2 is 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. Defects in SPTA1 are a cause of hereditary pyropoikilocytosis (HPP). HPP is an autosomal recessive disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. Defects in SPTA1 are the cause of spherocytosis type 3 (SPH3); also known as hereditary spherocytosis type 3 (HS3). 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. Belongs to the spectrin family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytoskeletal; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 1q21

Cellular Component: spectrin; cytosol; actin cytoskeleton

Molecular Function: actin filament binding; protein binding; structural constituent of cytoskeleton; protein heterodimerization activity; calcium ion binding

Biological Process: regulation of cell shape; axon guidance; positive regulation of protein binding; plasma membrane organization and biogenesis; actin filament capping; actin filament organization; positive regulation of T cell proliferation; hemopoiesis; lymphocyte homeostasis; porphyrin biosynthetic process

Disease: Elliptocytosis 2; Pyropoikilocytosis, Hereditary; Spherocytosis, Type 3