NP_001029031.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
72,927 Da
NCBI Official Full Name
very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2
NCBI Official Synonym Full Names
acyl-CoA dehydrogenase, very long chain
NCBI Protein Information
very long-chain specific acyl-CoA dehydrogenase, mitochondrial
UniProt Protein Name
Very long-chain specific acyl-CoA dehydrogenase, mitochondrial
UniProt Synonym Gene Names
UniProt Entry Name
ACADV_HUMAN
NCBI Summary for ACADVL
The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
UniProt Comments for ACADVL
ACADVL: Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons. Defects in ACADVL are the cause of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD). ACADVLD is an autosomal recessive disease which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form, with early onset, high mortality, and high incidence of cardiomyopathy; a milder childhood form, with later onset, usually with hypoketotic hypoglycemia as the main presenting feature, low mortality, and rare cardiomyopathy; and an adult form, with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria, usually triggered by exercise or fasting. Belongs to the acyl-CoA dehydrogenase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Mitochondrial; EC 1.3.8.9; Oxidoreductase; Lipid Metabolism - fatty acid
Chromosomal Location of Human Ortholog: 17p13.1
Cellular Component: cytoplasm; mitochondrial inner membrane; mitochondrial matrix; mitochondrion; nucleolus; nucleus
Molecular Function: acyl-CoA binding; acyl-CoA dehydrogenase activity; electron carrier activity; FAD binding; long-chain-acyl-CoA dehydrogenase activity; very-long-chain-acyl-CoA dehydrogenase activity
Biological Process: cellular lipid metabolic process; cellular protein metabolic process; energy derivation by oxidation of organic compounds; epithelial cell differentiation; fatty acid beta-oxidation; fatty acid beta-oxidation using acyl-CoA dehydrogenase; lipid homeostasis; negative regulation of fatty acid biosynthetic process; negative regulation of fatty acid oxidation; thermoregulation; unfolded protein response; very-long-chain fatty acid catabolic process
Disease: Acyl-coa Dehydrogenase, Very Long-chain, Deficiency Of
Research Articles on ACADVL
1. 11 mutations in ACADVL gene in 7 patients, 7 reported (p.S22X, p.W427X, p.A213T, p.G222R, p.R450H, c.296-297delCA, c.1605+1G>T), 4 novel (p.S72F, p.Q100X, p.M437T, p.D466Y). p.R450H and p.D466Y (14.28%, 2/14 alleles) mutations identified in 2 alleles.
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Products associated with ACADVL elisa kit
Pathways associated with ACADVL elisa kit
Diseases associated with ACADVL elisa kit
Organs/Tissues associated with ACADVL elisa kit
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