ACADVL


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ACADVL

A gene on chromosome 17p13.1 that encodes acyl-Coenzyme A dehydrogenase, a protein bound to the inner mitochondrial membrane that catalyses the first step of the mitochondrial fatty acid beta-oxidation pathway; it is specific to long-chain and very long-chain fatty acids.

Molecular pathology
ACADVL mutation reduces myocardial fatty acid beta-oxidation and is linked to cardiomyopathy and VLCAD—Very long-chain acyl-CoA dehydrogenase—deficiency.
References in periodicals archive ?
Amplification of larger genomic fragments necessary to sequence the ACADVL gene (1.7, 0.8, and 1.0 kb) was routinely done.
We have also used this method to validate complete gene sequencing for the ACADVL, GALT, and PAH genes and plan to incorporate these genes as reflex tests in our program.
[4] Human genes: GALC, galactosylceramidase; ACADM, acyl-CoA dehydrogenase, C-4 to C-12 straight chain; ACADVL, acyl-CoA dehydrogenase, very long chain; GALT, galactose-1-phosphate uridyl transferase; PAH, phenylalanine hydroxylase; FCGR2A, Fc fragment of IgG, low affinity IIa, receptor (CD32); RPP30, ribonuclease P/MRP 30kDa subunit.
Genes encoding FA metabolic enzymes were also up-regulated: ACSL1, ACAA2, ACADL, ACADVL, and HADHA.
These included triglyceride hydrolysis (PNPLA2), FA esterification (ACSL1), mitochondrial import (CPT1A, CPT1B, and SLC25A20) and [beta]-oxidation (ACADL, ACADVL, HADHA, and HADHB).