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Gene Review

EFHD1  -  EF-hand domain family, member D1

Homo sapiens

Synonyms: EF-hand domain-containing protein 1, EF-hand domain-containing protein D1, FLJ13612, MST133, MSTP133, ...

High impact information on EFHD1

  • Mitocalcin is a mitochondrial Ca2+-binding protein with EF-hand and coiled-coil domains, and which associates with the inner mitochondrial membrane (immunogold electron microscopy) (mouse) [1].
  • Mitocalcin is expressed specifically in neurons but not in glial cells (mouse) [1].
  • Structure contains a disordered region at the N-terminus, followed by two EF-hands and a coiled-coil domain [2].
  • EFhd1 has been shown to bind calcium (mouse) [3].
  • Ectopic expression of manganese superoxide dismutase 2 (SOD2), a mitochondrial enzyme that inactivates superoxide to protect cells from oxidative damage, induces down-regulation of EFhd1 in a pancreatic carcinoma cell line. Conversely, reduction of SOD2 abundance causes increased EFhd1 expression in a human pancreatic carcinoma cell line (MIA-PaCa2) [4].
  • Myoblasts expressing CBP/p300 showed a 17-fold up-regulation of EFhd1 [5].


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