The ECI1 gene encodes 3,2-trans-enoyl-CoA isomerase, a mitochondrial enzyme belonging to the hydratase/isomerase superfamily of proteins. This enzyme plays a key role in the beta-oxidation of unsaturated fatty acids. Specifically, it catalyzes the shift of the double bonds of 3-cis- and 3-trans-isomers to the 2-trans-enoyl-CoAs. By doing so, the enzyme allows the re-entry of the 3-cis- and 3-trans-enoyl-CoA esters into the beta-oxidation spiral.
The ECI1 gene is located on the short arm of chromosome 16. It spans a length of 12.9 kb of DNA and its coding sequence is contained within 7 exons. The gene encodes a 32.8 kDA protein product composed of 302 amino acids. An additional 30.8 kDa isoform of the ECI1 protein is encoded by an alternatively spliced transcript variant. While the gene is widely expressed in the human body, overexpression is seen in the liver, secretome and salivary gland.
Monies et al. (2017) examined the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient, a 6-year-old male from a consanguineous family, presented with fine/gross motor delay, speech delay, intellectual disability, hypertonia and demyelinating disease. Using whole exome sequencing, a homozygous mutation (c.563+1G>T) was identified in exon 5 of the patient’s ECI6 gene. This gene mutation was considered a candidate for pathogenicity as it was a novel variant located within a run of homozygosity and was predicted to be deleterious; and the gene functioned as a mitochondrial enzyme. Further studies are required to independently confirm this association.
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