Aliases for SPTBN4 Gene
External Ids for SPTBN4 Gene
Previous GeneCards Identifiers for SPTBN4 Gene
Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for SPTBN4 Gene
SPTBN4 (Spectrin Beta, Non-Erythrocytic 4) is a Protein Coding gene. Diseases associated with SPTBN4 include Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness and Spinocerebellar Ataxia 5. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include actin binding and phospholipid binding. An important paralog of this gene is SPTBN1.