Disease-gene associations mined from literature

Literature associating SPTBN1 and early infantile epileptic encephalopathy 5

SPTBN1 [ENSP00000349259]

Spectrin beta 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; Pleckstrin homology domain containing

Synonyms:  SPTBN1,  SPTBN1p,  hSPTBN1,  B2ZZ89,  D6W5C0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM