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Rabbit Anti-ACADVL/FITC Conjugated antibody
background:
ACADVL (acyl-Coenzyme A dehydrogenase, very long chain) catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. It is specific to esters of long-chain and very long chain fatty acids such as palmitoyl-CoA and stearoyl-CoA. Deficiencies in ACADVL are associated with reduced myocardial fatty acid beta-oxidation and cardiomyopathy.
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.
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.
Similarity:
Belongs to the acyl-CoA dehydrogenase family.
Database links:
Entrez Gene: 282130 Cow
Entrez Gene: 37 Human
Entrez Gene: 11370 Mouse
Entrez Gene: 25363 Rat
Omim: 609575 Human
SwissProt: P49748 Human
SwissProt: P50544 Mouse
SwissProt: P45953 Rat
Unigene: 437178 Human
Unigene: 18630 Mouse
Unigene: 33319 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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