EFHC1: A Key Gene in Juvenile Myoclonic Epilepsy
Comprehensive genomic and functional analysis of EFHC1, associated with myoclonic epilepsy and neuronal calcium signaling.
Gene Information Card
| Symbol | EFHC1 |
|---|---|
| Full Name | EF-hand domain containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p12.2 |
| NCBI Gene ID | 114327 ncbi.nlm.nih.gov/gene/114327 |
| Ensembl ID | ENSG00000196090 |
| UniProt ID | Q5JTH9 |
| OMIM ID | 608815 |
| HGNC ID | 16417 |
| Aliases | EFHC1, myoclonin1, FLJ10466 |
Description
EFHC1 (EF-hand domain containing 1) encodes a protein with three EF-hand motifs, suggesting a role in calcium binding and signaling. The protein, also known as myoclonin1, is expressed in neurons and is involved in cell proliferation, apoptosis, and ciliary function. Mutations in EFHC1 are associated with juvenile myoclonic epilepsy (JME) and other idiopathic generalized epilepsies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Juvenile Myoclonic Epilepsy (JME) | Missense mutations in EFHC1 impair calcium binding and alter neuronal apoptosis, leading to hyperexcitability. | ClinVar, OMIM |
| Idiopathic Generalized Epilepsy (IGE) | EFHC1 variants contribute to generalized seizure susceptibility through disrupted calcium signaling. | ClinVar, OMIM |
| Epilepsy, Myoclonic, Juvenile, Susceptibility to | Heterozygous mutations in EFHC1 increase risk for JME with incomplete penetrance. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebral cortex | 15.2 | Medium |
| Cerebellum | 18.7 | Medium |
| Testis | 8.3 | Low |
| Heart | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.5 | Neuronal model |
| U-87 MG (glioblastoma) | 7.8 | Glial model |
| HEK 293 (embryonic kidney) | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.544C>T (p.Arg182Trp) | Missense | Rare | Impaired calcium binding; associated with JME |
| c.662G>A (p.Arg221His) | Missense | Rare | Reduced protein stability; linked to JME |
| c.823G>A (p.Glu275Lys) | Missense | Rare | Altered EF-hand function; epilepsy risk |
| c.1057C>T (p.Arg353Trp) | Missense | Rare | Loss of apoptotic function; JME |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg182Trp, p.Arg221His) reduce calcium binding and impair normal apoptotic signaling, leading to neuronal hyperexcitability.
Gain of Function (GOF)
No gain-of-function mutations reported in EFHC1.
Dominant Negative (DN)
Heterozygous mutations may exert dominant-negative effects by disrupting protein complexes involved in calcium signaling.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • cytoplasm (GO:0005737) |
| • cilium (GO:0005929) | • apoptotic process (GO:0006915) |
| • cell proliferation (GO:0008283) | • intracellular signal transduction (GO:0035556) |
Pathways
• Calcium signaling pathway
• Apoptosis
• Ciliary function and motility
Protein Summary
Myoclonin1 (EFHC1) is a 640-amino acid protein containing three EF-hand domains that bind calcium. It localizes to the cytoplasm and cilia, and is involved in regulating cell proliferation and apoptosis. In neurons, EFHC1 modulates calcium-dependent signaling, and its dysfunction contributes to the pathogenesis of juvenile myoclonic epilepsy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EFHC1 Knockout HEK293 Cell Line | EDJ-KQ7443 | Human | 114327 | Details Get a Quote |
| EFHC1 Knockout A-549 Cell Line | EDJ-KQ32652 | Human | 114327 | Details Get a Quote |
| EFHC1 Knockout HCT 116 Cell Line | EDJ-KQ32653 | Human | 114327 | Details Get a Quote |
| EFHC1 Knockout HeLa Cell Line | EDJ-KQ32654 | Human | 114327 | Details Get a Quote |
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