EF-hand domain-containing protein 1 (EFHC1)

EF-hand domain-containing protein 1 (EFHC1) is an evolutionarily conserved protein characterized by the presence of EF-hand calcium-binding motifs and is required for proper function of cilia—organelle structures protruding from cells involved in sensing and signaling[1][2]. EFHC1 localizes to motile and non-motile cilia as well as to presynaptic regions of neurons, where it is involved in regulating neuronal excitability, mechanosensory processing, and dopamine neurotransmission[1][2]. In humans, mutations in the EFHC1 gene represent one of the most frequent identifiable causes of juvenile myoclonic epilepsy, a common idiopathic epilepsy syndrome[1][2]. EFHC1 is not a receptor or classical drug target, but its pivotal role in ciliary signaling and synaptic function explains its importance in neurodevelopment and disease, particularly in epilepsy through altered neuronal signal thresholds and neurotransmitter regulation[1][2].

Other names

FLJ10466RIB72POC9Myoclonin-1EJM1dJ304B14.2

Not a direct drug target; mutations cause loss-of-function influencing cilia and neuronal signaling