SPTA1
Description
The SPTA1 (spectrin alpha, erythrocytic 1) is a protein-coding gene located on chromosome 1.
SPTA1 encodes spectrin alpha chain, erythrocyte, a protein that forms a molecular scaffold in cells, connecting the plasma membrane to the cytoskeleton. This connection is crucial for maintaining cell shape, organizing transmembrane proteins, and positioning organelles. Spectrin is a tetramer composed of alpha-beta dimers linked head-to-head. SPTA1 belongs to a family of alpha-spectrin genes and the encoded protein is primarily composed of 22 spectrin repeats involved in dimer formation. Compared to non-erythrocytic alpha spectrin, erythrocyte spectrin forms weaker tetramer interactions, which may contribute to the flexibility and deformability of red blood cells. Mutations in SPTA1 can cause various inherited red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. SPTA1 has been shown to interact with the Abl gene.
SPTA1, encoding erythrocyte spectrin alpha chain, forms the main component of the cytoskeleton underneath the red blood cell membrane. It binds to proteins like band 4.1 and actin, creating the structural framework of the erythrocyte membrane.
SPTA1 is also known as EL2, HPP, HS3, SPH3, SPTA.
Associated Diseases
- Elliptocytosis 2
- Spherocytosis, autosomal recessive
- Pyropoikilocytosis, hereditary
- Hereditary elliptocytosis
- Hereditary spherocytosis
