2,4-dienoyl-CoA reductase 1

2,4-Dienoyl-CoA reductase 1 (DECR1) is an enzyme that in humans is encoded by the DECR1 gene. This enzyme is part of the mitochondrial fatty acid beta-oxidation pathway and plays a crucial role in the metabolism of unsaturated fatty acids.

Function

The 2,4-dienoyl-CoA reductase 1 enzyme is involved in the metabolism of polyunsaturated fatty acyl-CoAs by catalyzing the reduction of 2,4-dienoyl-CoA to trans-3-enoyl-CoA. This step is essential in the beta-oxidation pathway, particularly for unsaturated fatty acids.

Structure

The DECR1 gene is located on the 8th chromosome, with its specific location being 8q21.3. The gene contains 9 exons. The DECR1 enzyme is a protein that consists of 289 amino acids, and it has a molecular mass of approximately 31 kDa.

Clinical significance

Mutations in the DECR1 gene have been associated with 2,4-dienoyl-CoA reductase deficiency, a rare autosomal recessive metabolic disorder. This condition is characterized by a variety of symptoms, including hypotonia, developmental delay, and cardiomyopathy.

See also

• Fatty acid metabolism
• Beta oxidation
• Mitochondrion

External links

• GeneCards - DECR1