Disease-gene associations mined from literature

Literature associating SPTA1 and early infantile epileptic encephalopathy 5

SPTA1 [ENSP00000357129]

Spectrin alpha chain, erythrocytic 1; Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane; EF-hand domain containing

Synonyms:  SPTA1,  SPTA1p,  hSPTA1,  O60686,  P02549 ...

Linkouts:  STRING  Pharos  UniProt