SPTBN1
Description
The SPTBN1 (spectrin beta, non-erythrocytic 1) is a protein-coding gene located on chromosome 2.
Spectrin beta chain, brain 1 is a protein encoded by the SPTBN1 gene in humans. It functions as an actin crosslinking and molecular scaffold protein that connects the plasma membrane to the actin cytoskeleton. Spectrin is involved in determining cell shape, arranging transmembrane proteins, and organizing organelles. It consists of two antiparallel dimers of alpha- and beta-subunits. This gene belongs to a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain and 17 spectrin repeats crucial for dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. SPTBN1 has been shown to interact with Merlin.
Fodrin, a protein involved in secretion, binds to calmodulin in a calcium-dependent manner, suggesting a role in calcium-regulated cytoskeletal movement at the cell membrane. It plays a critical role in the development and function of the central nervous system.
SPTBN1 is also known as DDISBA, ELF, HEL102, SPTB2, betaSpII.
