SPTAN1, Official Symbol SPTAN1provided by HGNC Official Full Name spectrin alpha, non-erythrocytic 1provided by HGNC Primary source HGNC:HGNC:11273 See related Ensembl:ENSG00000197694 MIM:182810; AllianceGenome:HGNC:11273 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEE5; NEAS; EIEE5; SPTA2 Summary 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] Expression Ubiquitous expression in brain (RPKM 87.7), testis (RPKM 42.9) and 24 other tissues See more Orthologs mouse all