Aliases for EFHC1 Gene
External Ids for EFHC1 Gene
Previous HGNC Symbols for EFHC1 Gene
Previous GeneCards Identifiers for EFHC1 Gene
This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
GeneCards Summary for EFHC1 Gene
EFHC1 (EF-Hand Domain Containing 1) is a Protein Coding gene. Diseases associated with EFHC1 include Epilepsy, Myoclonic Juvenile and Epilepsy, Juvenile Absence 1. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein C-terminus binding. An important paralog of this gene is EFHC2.
UniProtKB/Swiss-Prot for EFHC1 Gene
Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581).