Gene: EFHD1

Alternate names for this Gene: MST133|MSTP133|PP3051|SWS2

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q37.1

Description of this Gene: EF-hand domain family member D1

Type of Gene: protein-coding