DISEASES

Disease-gene associations mined from literature

Literature associating EFHC1 and familial febrile seizures 2

EFHC1 [ENSP00000360107]

EF-hand domain-containing protein 1; Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization . Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration . May enhance calcium influx through CACNA1E and stimulate programmed cell death . ECO:0000269|PubMed:19734894, ECO:0000269|PubMed:22926142,

Synonyms:  EFHC1,  EFHC1p,  hEFHC1,  A0A1B0GTB1,  A0A1B0GTD7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM