DISEASES

Disease-gene associations mined from literature

Literature associating EFHD1 and Muckle-Wells syndrome

EFHD1 [ENSP00000264059]

EF-hand domain-containing protein D1; Acts as a calcium sensor for mitochondrial flash (mitoflash) activation, an event characterized by stochastic bursts of superoxide production . May play a role in neuronal differentiation (By similarity).

Synonyms:  EFHD1,  EFHD1p,  hEFHD1,  A0A087X1Z2,  C9JTV4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM