Disease-gene associations mined from literature

Literature associating SPTAN1 and early infantile epileptic encephalopathy 5

SPTAN1 [ENSP00000361824]

Spectrin alpha chain, non-erythrocytic 1; Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane; EF-hand domain containing

Synonyms:  SPTAN1,  SPTAN1p,  hSPTAN1,  Q13813,  NEAS ...

Linkouts:  STRING  Pharos  UniProt  OMIM