EF-hand domain (C-terminal) containing 1

Symbol

EFHC1 (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
efhc1 Danio rerio
Efhc1 Mus musculus
Efhc1 Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA4275 Gene expression of EFHC1 increases with age Molecular skin Human EFHC1 —

GO Terms

GO IDGO TermGO Category
GO:0005929 cilium cellular_component
GO:0005930 axoneme cellular_component
GO:0019861 flagellum cellular_component
GO:0043025 neuronal cell body cellular_component
GO:0005509 calcium ion binding molecular_function
GO:0008022 protein C-terminus binding molecular_function