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ONTOLOGY REPORT - ANNOTATIONS


Term:isovaleric acidemia pathway
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Accession:PW:0001874 term browser browse the term
Definition:A rare autosomal condition resulting from an impaired amino acid metabolism.
Synonyms:exact_synonym: isovaleric acid CoA dehydrogenase deficiency pathway;   isovaleric acidemia disease pathway;   isovaleric aciduria pathway;   isovaleryl-CoA dehydrogenase deficiency pathway
 related_synonym: SMP:00238;   SMP:00524;   isovaleric aciduria disease pathway


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isovaleric acidemia pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abat 4-aminobutyrate aminotransferase JBrowse link 16 8,513,429 8,621,568 RGD:10402751
G Acaa2 acetyl-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) JBrowse link 18 74,779,212 74,806,207 RGD:10402751
G Acad8 acyl-Coenzyme A dehydrogenase family, member 8 JBrowse link 9 26,974,138 26,999,571 RGD:10402751
G Acadm acyl-Coenzyme A dehydrogenase, medium chain JBrowse link 3 153,922,353 153,944,643 RGD:10402751
G Acads acyl-Coenzyme A dehydrogenase, short chain JBrowse link 5 115,110,299 115,119,346 RGD:10402751
G Acadsb acyl-Coenzyme A dehydrogenase, short/branched chain JBrowse link 7 131,410,601 131,446,211 RGD:10402751
G Acat1 acetyl-Coenzyme A acetyltransferase 1 JBrowse link 9 53,580,522 53,610,350 RGD:10402751
G Aldh2 aldehyde dehydrogenase 2, mitochondrial JBrowse link 5 121,566,027 121,593,824 RGD:10402751
G Aldh6a1 aldehyde dehydrogenase family 6, subfamily A1 JBrowse link 12 84,430,717 84,451,024 RGD:10402751
G Aox1 aldehyde oxidase 1 JBrowse link 1 58,029,809 58,106,410 RGD:10402751
G Auh AU RNA binding protein/enoyl-coenzyme A hydratase JBrowse link 13 52,835,107 52,929,704 RGD:10402751
G Bcat1 branched chain aminotransferase 1, cytosolic JBrowse link 6 144,993,835 145,076,157 RGD:10402751
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide JBrowse link 7 25,629,852 25,658,782 RGD:10402751
G Bckdhb branched chain ketoacid dehydrogenase E1, beta polypeptide JBrowse link 9 83,925,111 84,124,240 RGD:10402751
G Dbt dihydrolipoamide branched chain transacylase E2 JBrowse link 3 116,513,070 116,549,981 RGD:10402751
G Dld dihydrolipoamide dehydrogenase JBrowse link 12 31,331,562 31,351,471 RGD:10402751
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial JBrowse link 7 140,105,710 140,116,421 RGD:10402751
G Hibadh 3-hydroxyisobutyrate dehydrogenase JBrowse link 6 52,546,230 52,640,300 RGD:10402751
G Hibch 3-hydroxyisobutyryl-Coenzyme A hydrolase JBrowse link 1 52,845,038 52,920,986 RGD:10402751
G Hmgcl 3-hydroxy-3-methylglutaryl-Coenzyme A lyase JBrowse link 4 135,946,448 135,962,668 RGD:10402751
G Hmgcs2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 JBrowse link 3 98,280,431 98,310,738 RGD:10402751
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 JBrowse link X 152,001,896 152,004,442 RGD:10402751
G Ivd isovaleryl coenzyme A dehydrogenase JBrowse link 2 118,861,959 118,882,909 RGD:10402751
G Mccc1 methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) JBrowse link 3 35,956,292 36,000,694 RGD:10402751
G Mccc2 methylcrotonoyl-Coenzyme A carboxylase 2 (beta) JBrowse link 13 99,948,532 100,015,639 RGD:10402751
G Mcee methylmalonyl CoA epimerase JBrowse link 7 64,392,622 64,412,121 RGD:10402751
G Mmut methylmalonyl-Coenzyme A mutase JBrowse link 17 40,934,685 40,961,990 RGD:10402751
G Oxct1 3-oxoacid CoA transferase 1 JBrowse link 15 4,026,428 4,155,344 RGD:10402751
G Pcca propionyl-Coenzyme A carboxylase, alpha polypeptide JBrowse link 14 122,484,365 122,889,944 RGD:10402751
G Pccb propionyl Coenzyme A carboxylase, beta polypeptide JBrowse link 9 100,982,032 101,034,940 RGD:10402751

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Path 1
Term Annotations click to browse term
  pathway 6011
    disease pathway 2078
      congenital disease pathway 527
        inborn genetic disease pathway 527
          inborn error of metabolism pathway 527
            inborn error of amino acid metabolism pathway 229
              isovaleric acidemia pathway 30
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.