Aliases for EFHD1 Gene
External Ids for EFHD1 Gene
Previous GeneCards Identifiers for EFHD1 Gene
This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
GeneCards Summary for EFHD1 Gene
EFHD1 (EF-Hand Domain Family Member D1) is a Protein Coding gene. Diseases associated with EFHD1 include Colorblindness, Partial, Protan Series and Red-Green Color Blindness. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is EFHD2.
UniProtKB/Swiss-Prot Summary for EFHD1 Gene
Acts as a calcium sensor for mitochondrial flash (mitoflash) activation, an event characterized by stochastic bursts of superoxide production (PubMed:26975899). May play a role in neuronal differentiation (By similarity).