DECR1

Description

The DECR1 (2,4-dienoyl-CoA reductase 1) is a protein-coding gene located on chromosome 8.

DECR1 is an auxiliary enzyme involved in beta-oxidation, a key process for breaking down fatty acids. It specifically acts on unsaturated fatty acids with double bonds at both even and odd numbered positions within mitochondria. Its function involves using NADPH to convert 2,4-dienoyl-CoA to trans-3-enoyl-CoA.

DECR1 is also known as DECR, NADPH, SDR18C1.

Associated Diseases

• progressive encephalopathy with leukodystrophy due to DECR deficiency
• substance abuse
• glycogen storage disease VI
• corticobasal syndrome
• X-linked parkinsonism-spasticity syndrome
• phosphoenolpyruvate carboxykinase deficiency, mitochondrial
• severe neurodegenerative syndrome with lipodystrophy
• spinocerebellar ataxia type 20
• glycogen storage disease due to liver phosphorylase kinase deficiency
• dystonia 16
• 3-methylglutaconic aciduria type 1