功能： catalytic activity:Acyl-CoA + ETF = 2,3-dehydroacyl-CoA + reduced ETF.,cofactor:FAD.,disease:Defects in ACADVL are the cause of very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]. VLCAD deficiency 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.,function:Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and stearoyl-CoA. Can accomodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons.,miscellaneous:A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues.,pathway:Lipid metabolism; mitochondrial fatty acid beta-oxidation.,similarity:Belongs to the acyl-CoA dehydrogenase family.,subunit:Homodimer.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion inner membrane ; Peripheral membrane protein .; [Isoform 2]: Mitochondrion inner membrane ; Peripheral membrane protein .
功能： catalytic activity:Acyl-CoA + ETF = 2,3-dehydroacyl-CoA + reduced ETF.,cofactor:FAD.,disease:Defects in ACADVL are the cause of very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]. VLCAD deficiency 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.,function:Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and stearoyl-CoA. Can accomodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons.,miscellaneous:A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues.,pathway:Lipid metabolism; mitochondrial fatty acid beta-oxidation.,similarity:Belongs to the acyl-CoA dehydrogenase family.,subunit:Homodimer.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion inner membrane ; Peripheral membrane protein .; [Isoform 2]: Mitochondrion inner membrane ; Peripheral membrane protein .
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