Disease-gene associations mined from literature

Literature associating ANK1 and early infantile epileptic encephalopathy 5

ANK1 [ENSP00000265709]

Ankyrin 1, erythrocytic; Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions.

Synonyms:  ANK1,  ANK1p,  hANK1,  ANK1-001,  ANK1-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM