Gene: ACADL

Alternate names for this Gene: ACAD4|LCAD

Gene Summary: The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia.

Gene is located in Chromosome: 2

Location in Chromosome : 2q34

Description of this Gene: acyl-CoA dehydrogenase long chain

Type of Gene: protein-coding

rs2286963 in ACADL gene and Acylcarnitines measurement PMID 26068415 2015 Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.

rs3764913 in ACADL gene and Chronic Kidney Diseases PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

rs3764913 in ACADL gene and Kidney Failure, Chronic PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

rs2286963 in ACADL gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

PMID 20037589 2010 A genome-wide perspective of genetic variation in human metabolism.

rs6739874 in ACADL gene and Serum total cholesterol measurement PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.