Name

SPTAN1 Gene

spectrin, alpha, non-erythrocytic 1

Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]

sptan1 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term sptan1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

SPTAN1 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for SPTAN1 from the Pathway Commons Protein-Protein Interactions dataset.