其他名称： 2 arylpropionyl CoA epimerase;2 methylacyl CoA racemase;2-methylacyl-CoA racemase;Alpha methylacyl CoA racemase;Alpha methylacyl Coenzyme A racemase;Alpha methylacyl-CoA racemase deficiency, included;Alpha-methylacyl-CoA racemase;Amacr;AMACR deficiency, included;AMACR_HUMAN;CBAS4;Da1-8;EC 5.1.99.4;Macr 1;Macr1;Methylacyl CoA racemase alpha;P504S;RACE;RM.
实测条带： 42kD
信号通路： Primary bile acid biosynthesis;
功能： catalytic activity:(2S)-2-methylacyl-CoA = (2R)-2-methylacyl-CoA.,disease:Defects in AMACR are the cause of alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:604489]. AMACRD results in elevated plasma concentrations of pristanic acid C27-bile-acid intermediates. It can be associated with polyneuropathy, retinitis pigmentosa, epilepsy.,disease:Defects in AMACR are the cause of congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950]; also known as cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid or trihydroxycoprostanic acid in bile. Clinical features include neonatal jaundice, intrahepatic cholestasis, bile duct deficiency and absence of cholic acid from bile.,function:Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers.,pathway:Lipid metabolism; bile acid biosynthesis.,pathway:Lipid metabolism; fatty acid metabolism.,similarity:Belongs to the caiB/baiF CoA-transferase family.,similarity:Contains 1 C1q domain.,similarity:Contains 1 collagen-like domain.,
其他名称： 2 arylpropionyl CoA epimerase;2 methylacyl CoA racemase;2-methylacyl-CoA racemase;Alpha methylacyl CoA racemase;Alpha methylacyl Coenzyme A racemase;Alpha methylacyl-CoA racemase deficiency, included;Alpha-methylacyl-CoA racemase;Amacr;AMACR deficiency, included;AMACR_HUMAN;CBAS4;Da1-8;EC 5.1.99.4;Macr 1;Macr1;Methylacyl CoA racemase alpha;P504S;RACE;RM.
实测条带： 42kD
信号通路： Primary bile acid biosynthesis;
功能： catalytic activity:(2S)-2-methylacyl-CoA = (2R)-2-methylacyl-CoA.,disease:Defects in AMACR are the cause of alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:604489]. AMACRD results in elevated plasma concentrations of pristanic acid C27-bile-acid intermediates. It can be associated with polyneuropathy, retinitis pigmentosa, epilepsy.,disease:Defects in AMACR are the cause of congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950]; also known as cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid or trihydroxycoprostanic acid in bile. Clinical features include neonatal jaundice, intrahepatic cholestasis, bile duct deficiency and absence of cholic acid from bile.,function:Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers.,pathway:Lipid metabolism; bile acid biosynthesis.,pathway:Lipid metabolism; fatty acid metabolism.,similarity:Belongs to the caiB/baiF CoA-transferase family.,similarity:Contains 1 C1q domain.,similarity:Contains 1 collagen-like domain.,
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