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 ?
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.
These included triglyceride hydrolysis (PNPLA2), FA esterification (ACSL1), mitochondrial import (CPT1A, CPT1B, and SLC25A20) and [beta]-oxidation (ACADL, ACADVL, HADHA, and HADHB).