DISEASES

Disease-gene associations mined from literature

Literature associating EFHC1 and electroclinical syndrome

EFHC1 [ENSP00000360107]

EF-hand domain (C-terminal) containing 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; EF-hand domain containing

Synonyms:  EFHC1,  EFHC1p,  hEFHC1,  B2CKC5,  EFHC1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM