LP172689-4

ACADVL gene

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Descriptions

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). VLCAD deficiency is cause by mutations in the ACADVL gene, which are inherited in an autosomal recessive pattern. Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. Affected individuals are also at risk for serious complications such as liver abnormalities and life-threatening heart problems. When symptoms begin in adolescence or adulthood, they tend to be milder and usually do not involve the heart. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency

The ACADVL gene (acyl-CoA dehydrogenase, very long chain) [HGNC Gene ID:92] is located on chromosome 17p13.1. 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] [NCBI Gene ID:37] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name

ACADVL gene

Part Display Name

ACADVL gene

Part Type

Component (Describes the core component or analyte measured)

Created On

2013-02-21

Construct for LOINC Short Name

ACADVL

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