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- Table of Contents
Facts about Very long-chain specific acyl-CoA dehydrogenase, mitochondrial.
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Human | |
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Gene Name: | ACADVL |
Uniprot: | P49748 |
Entrez: | 37 |
Belongs to: |
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acyl-CoA dehydrogenase family |
ACAD6; acyl-CoA dehydrogenase, very long chain; acyl-Coenzyme A dehydrogenase, very long chain; EC 1.3.99; EC 1.3.99.-; LCACD; very long-chain specific acyl-CoA dehydrogenase, mitochondrial; VLCAD
Mass (kDA):
70.39 kDA
Human | |
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Location: | 17p13.1 |
Sequence: | 17; NC_000017.11 (7217125..7225267) |
Mitochondrion inner membrane.
The ACADVL Marker has been immunoprecipitated, and can be used for a variety of biological experiments. ACADVL is an enzyme that inhibits betaoxidation of myocardial fatty acid. It can be used in a variety of ways. Learn more about the ACADVL marker and its uses. Here are some of its most popular uses.
ACADVL is an enzyme that reduce myocardial fatty acid beta-oxygenation. This enzyme plays a role in the prevention of heart disease by decreasing myocardial fat acid beta-oxidation. ACADVL mutation is heterozygous in mice. It is responsible the switch towards higher glucose utilization in myocardial hypotrophy.
ACADVL is an enzyme that is found in the mitochondria. It is an essential part of lipid metabolism. It has catalytic activity towards esters and long-chain, fatty acids. It is essential for fatty acid oxidation, the multistep process in which fats are broken down in the body. ACADVL, a component of mitochondrial membrane, is necessary for its proper functioning. ACADVL deficiency can affect the function and production of energy from fats in your body.
ACADVL is located at 17p13 on chromosome 17. The gene contains several disease-causing mutations, but none is prominent enough to affect phenotype. A molecular study found that about half of those with positive VLCAD BBS screens are carriers of a known pathogenic variant at the ACADVL genetic. However, it can be difficult to diagnose patients with ACADVL dysfunctional myocardial tissue.
A group of over 20 life-threatening disorders that are caused by inborn metabolic errors, including disruptions in the entry of fatty acids substrates to mitochondria and defective boxidation within the mitochondrial matrix. These conditions are often passed down from the parents as autosomal dominant and have been responsible for significant morbidity. The a-carbon chain length of fatty acyl-CoA substrates are characteristic.
ACADVL is a mitochondrial fatty acid metabolism enzyme. A deficiency can lead to metabolic crises, which can be caused by excessive fatty acids in your body. Long-chain fat acids are released into blood, causing tissue damage, including the cardiovascular system. The gene is used to measure the activity ACADVL in the organism in many biological assays.
VLCADD's clinical manifestations are dependent on the patient's age. The severe form, associated cardiomyopathy, has a high death rate. ACADVL-deficient infants will likely be born with a null mutation resulting in no residual VLCAD activity. Although VLCADD has been genetically confirmed in a few cases, the variety of ACADVL mutations suggests the gene may also play a role with other human diseases.
This study shows that the ACADVL marker can be immunoprecipitated in spleen. The lysate was mixed with anti-Sesn2 antibodies and washed three more times in Tris-buffered Saline with Tween-20. After washing, membranes were incubated for 1 h at room temperature with secondary antibody, horseradish peroxidase-conjugated goat anti-rabbit IgG, Boster Bio (Wuhan, China). The membranes could then be developed by enhanced chemical luminescence.
ACADVL is the gene that contains instructions for an energy producing enzyme in the mitochondria. This enzyme is required to perform fatty acid oxidation. This is a multistep procedure in which fats and other substances are broken down. VLCs, or very long-chain fat acids, are a major source energy for the heart. ACADVL can therefore be useful in a variety bioassays.
A cell line of HEK293T cells can be used to test the pathogenicity of ACADVL variants in human fibroblasts. The fibroblasts cannot be used to determine the pathogenicity. Using HEK293T cell may improve the diagnostic and therapeutic outcomes for patients with VLCAD. HEK293T cells are also useful in testing variants of ACADVL that are not yet known or unclear in their significance in humans.
In newborn screening, elevated levels of 12 and 14-hydrocarbon fatty acids raise suspicion for VLCAD deficiency. A diagnosis can be made if a patient has elevated levels C14-acylcarnitines. Functional analyses of VLCAD activation in cultured fibrills can also aid in diagnosing VLCAD. VLCAD-deficient patients should not fast as it can cause rhabdomyolysis. Fluids and urine akalinization are recommended for this condition.
VLCAD, or very-long-chain-acyl-CoA deshydrogenase, is an inherited metabolic condition caused by mutations at the ACADVL genetic. VLCAD deficiency sufferers can experience a variety symptoms. ACADVL, a hereditary disorder, affects mitochondrial metabolism. Although it is rare, it is a serious condition. People with this disorder suffer from cardiac and hepatic diseases.
Numerous companies offer ACADVL Marker. Boster is among them. They have a great selection of high-affinity primary antibodies that have been highly cited over the last 25 years. Their antibodies are highly trusted by the research community and have been validated on immunohistochemistry, Western Blotting, and ELISA. You can purchase ACADVL Marker from Boster Bio to use in your research.
PMID: 7668252 by Aoyama T., et al. Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients.
PMID: 8845838 by Andresen B.S., et al. Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.