SPTBN4


Description

The SPTBN4 (spectrin beta, non-erythrocytic 4) is a protein-coding gene located on chromosome 19.

SPTBN4, also known as Spectrin, beta, non-erythrocytic 4, is a protein encoded by the SPTBN4 gene in humans. Spectrin proteins are involved in linking the cell membrane to the actin cytoskeleton, influencing cell shape, organizing transmembrane proteins, and structuring organelles. They consist of two antiparallel dimers of alpha- and beta- subunits. SPTBN4 belongs to the beta-spectrin gene family and is located in the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A similar gene in mice is crucial for the localization of specific membrane proteins in neuronal polarized regions. Multiple transcript variants, encoding different isoforms, have been identified for this gene. SPTBN4 has been found to interact with PTPRN and DISC1.

SPTBN4 is also known as CMND, NEDHND, QV, SPNB4, SPTBN3.

Associated Diseases


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