This page was created for University of Wisconsin undergraduate course Genetics 564
The EFHC1 Gene
The gene for the EFHC1 protein is located on human chromosome six and encodes a 640 amino acid protein.
This gene is common mutated among juvenile myoclonic epilepsy patients, and typically presents with a single missence mutation [1]. This means that one nucleotide is switched to an incorrect base, changing the amino acid encoded by the DNA. These mutations have been found in five locations within the EFHC1 gene, and are depicted in Image 1 detailing the amino acid change that results [1]. One mutation, Argenine 182 conversion to histidine, is responsible for 65% of JME cases caused by EFHC1 dysfunction [1]. These mutations in the EFHC1 gene inhibit EFHC1 protein function, leading to myoclonic seizures and inappropriate neuronal firing. The process by which EFHC1 mutation does this is not yet known. |
References:
(1) Jara Prado et al. Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy. Seizure Journal 2012. http://www.ncbi.nlm.nih.gov/pubmed/22727576