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.,
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.,
相關(guān)產(chǎn)品: RS0001,RS0002,YM3028,YM3364
細胞定位: Peroxisome . Mitochondrion .
科研貨號: PLA021347
Hunan UPT Biotechnology Co.,Ltd
Website:m.tjdqdt.com Servive hotline :4006916686
E-mail:service@uptbio.com
Address:
Room 402, Building 13, Xinggong International Industrial Park, 100 Guyuan Road,
Yuelu District, Changsha City, Hunan Province, China.