|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “EF-hand domain (C-terminal) containing 1.”
EFHC1 is the gene's official symbol. The EFHC1 gene is also known by other names, listed below.
The EFHC1 gene provides instructions for making a protein called EF-hand domain containing protein 1 (EFHC1). The EFHC1 protein interacts with another protein that acts as a calcium channel, allowing positively charged calcium atoms (calcium ions) to cross the cell membrane. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. The role of the EFHC1 protein is not well understood, although it is thought to help regulate the balance of calcium ions inside the cell (calcium homeostasis). Studies also show that the EFHC1 protein may stimulate the self-destruction of cells (apoptosis).
Mutations in the EFHC1 gene have been identified in a small number of people with juvenile myoclonic epilepsy. This condition typically begins in childhood or adolescence and causes recurrent myoclonic seizures, which are characterized by rapid, uncontrolled muscle jerks. Affected individuals can also have other types of seizures called generalized tonic-clonic seizures (or grand mal seizures) and absence seizures. Most gene mutations associated with juvenile myoclonic epilepsy replace single protein building blocks (amino acids) in the EFHC1 protein. The function of the altered protein is thought to be reduced. Although it is unclear how EFHC1 gene mutations lead to juvenile myoclonic epilepsy, researchers have suggested that a decrease in EFHC1 protein function reduces apoptosis, leading to more neurons than normal, and disrupts calcium homeostasis. Together, these changes may lead to overstimulation of the neurons, causing seizures characteristic of juvenile myoclonic epilepsy.
Cytogenetic Location: 6p12.3
Molecular Location on chromosome 6: base pairs 52,284,993 to 52,360,582
The EFHC1 gene is located on the short (p) arm of chromosome 6 at position 12.3.
More precisely, the EFHC1 gene is located from base pair 52,284,993 to base pair 52,360,582 on chromosome 6.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about EFHC1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; apoptosis ; calcium ; cell ; cell membrane ; channel ; domain ; gene ; homeostasis ; ions ; juvenile ; nervous system ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.