EHMT1

EFHC1
Identifiers
Symbol	?
NCBI gene	114327
HGNC	19160
OMIM	608815
RefSeq	NM_018100
UniProt	Q8IWE4
Search for Structures Swiss-model Domains InterPro

EFHC1 (EF-hand domain containing 1) is a gene that encodes a protein involved in the regulation of neuronal activity and is associated with juvenile myoclonic epilepsy (JME). The EFHC1 protein contains EF-hand motifs, which are helix-loop-helix structural domains capable of binding calcium ions, suggesting a role in calcium signaling pathways.

Structure

The EFHC1 gene is located on the short arm of chromosome 6 (6p12.2) and spans approximately 90 kilobases. It consists of 11 exons and encodes a protein of 640 amino acids. The protein structure includes three EF-hand motifs, which are characteristic of calcium-binding proteins, and a coiled-coil domain that may facilitate protein-protein interactions.

Function

EFHC1 is predominantly expressed in the brain, particularly in regions such as the cerebral cortex and cerebellum. The protein is thought to play a critical role in neuronal development and synaptic function. It is involved in the regulation of calcium homeostasis and may influence neurotransmitter release and neuronal excitability.

Clinical Significance

Mutations in the EFHC1 gene have been linked to juvenile myoclonic epilepsy (JME), a common form of generalized epilepsy that typically begins in adolescence. JME is characterized by myoclonic jerks, generalized tonic-clonic seizures, and absence seizures. The exact mechanism by which EFHC1 mutations lead to epilepsy is not fully understood, but it is believed that altered calcium signaling and neuronal excitability contribute to the pathogenesis.

Research

Ongoing research is focused on understanding the precise molecular mechanisms by which EFHC1 mutations cause epilepsy. Studies using animal models and cell cultures aim to elucidate the role of EFHC1 in neuronal networks and its interaction with other proteins involved in synaptic transmission.

Also see

• Juvenile myoclonic epilepsy
• Calcium signaling
• Neuronal excitability
• Epilepsy
• EF-hand motif