Human Gene ACADVL (uc002gev.4) Description and Page Index
Description: Homo sapiens acyl-CoA dehydrogenase, very long chain (ACADVL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. RefSeq Summary (NM_000018): 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]. Transcript (Including UTRs) Position: hg19 chr17:7,123,150-7,128,586 Size: 5,437 Total Exon Count: 20 Strand: + Coding Region Position: hg19 chr17:7,123,304-7,128,416 Size: 5,113 Coding Exon Count: 20
ID:ACADV_HUMAN DESCRIPTION: RecName: Full=Very long-chain specific acyl-CoA dehydrogenase, mitochondrial; Short=VLCAD; EC=126.96.36.199; Flags: Precursor; FUNCTION: 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. CATALYTIC ACTIVITY: A very-long-chain acyl-CoA + electron-transfer flavoprotein = a very-long-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein. COFACTOR: FAD. PATHWAY: Lipid metabolism; mitochondrial fatty acid beta- oxidation. SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Mitochondrion inner membrane. DISEASE: Defects in ACADVL are the cause of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]. 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. MISCELLANEOUS: A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues. SIMILARITY: Belongs to the acyl-CoA dehydrogenase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACADVL";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): ACADVL CDC HuGE Published Literature: ACADVL
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P49748
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AK293549 - Homo sapiens cDNA FLJ55801 complete cds, highly similar to Very-long-chain specific acyl-CoAdehydrogenase, mitochondrial precursor (EC 1.3.99.-). AK097243 - Homo sapiens cDNA FLJ39924 fis, clone SPLEN2021057, highly similar to ACYL-COA DEHYDROGENASE, VERY-LONG-CHAIN SPECIFIC, MITOCHONDRIAL PRECURSOR (EC 1.3.99.-). AK293537 - Homo sapiens cDNA FLJ56425 complete cds, highly similar to Very-long-chain specific acyl-CoAdehydrogenase, mitochondrial precursor (EC 1.3.99.-). AK056956 - Homo sapiens cDNA FLJ32394 fis, clone SKMUS2000078, highly similar to Very-long-chain specific acyl-CoA dehydrogenase, mitochondrial precursor (EC 1.3.99.-). AK302653 - Homo sapiens cDNA FLJ58866 complete cds, highly similar to Very-long-chain specific acyl-CoAdehydrogenase, mitochondrial precursor (EC 1.3.99.-). BC012912 - Homo sapiens acyl-Coenzyme A dehydrogenase, very long chain, mRNA (cDNA clone MGC:21196 IMAGE:4471040), complete cds. X86556 - H.sapiens HVLCAD gene. BC000399 - Homo sapiens acyl-Coenzyme A dehydrogenase, very long chain, mRNA (cDNA clone MGC:8529 IMAGE:2822593), complete cds. JD195755 - Sequence 176779 from Patent EP1572962. BC020218 - Homo sapiens acyl-Coenzyme A dehydrogenase, very long chain, mRNA (cDNA clone MGC:31908 IMAGE:5090104), complete cds. AK056083 - Homo sapiens cDNA FLJ31521 fis, clone NT2RI2000255, highly similar to Very-long-chain specific acyl-CoAdehydrogenase, mitochondrial precursor (EC 1.3.99.-). AK222518 - Homo sapiens mRNA for acyl-Coenzyme A dehydrogenase, very long chain precursor variant, clone: adSE00281. AK058109 - Homo sapiens cDNA FLJ25380 fis, clone TST02157, highly similar to ACYL-COA DEHYDROGENASE, VERY-LONG-CHAIN SPECIFIC, MITOCHONDRIAL PRECURSOR (EC 1.3.99.-). D43682 - Homo sapiens VLACD mRNA for very-long-chain acyl-CoA dehydrogenase, complete cds. AB527421 - Synthetic construct DNA, clone: pF1KB5446, Homo sapiens ACADVL gene for acyl-Coenzyme A dehydrogenase, very long chain, without stop codon, in Flexi system. KJ890613 - Synthetic construct Homo sapiens clone ccsbBroadEn_00007 ACADVL gene, encodes complete protein. JD027692 - Sequence 8716 from Patent EP1572962. JD404559 - Sequence 385583 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00071 - Fatty acid metabolism hsa01100 - Metabolic pathways
BioCyc Knowledge Library FAO-PWY - fatty acid β-oxidation I