Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:isovaleric acidemia pathway
go back to main search page
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


show annotations for term's descendants       view all columns           Sort by:
 
isovaleric acidemia pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abat 4-aminobutyrate aminotransferase JBrowse link 10 7,093,406 7,200,439 RGD:10402751
G Acaa2 acetyl-CoA acyltransferase 2 JBrowse link 18 70,733,872 70,762,395 RGD:10402751
G Acad8 acyl-CoA dehydrogenase family, member 8 JBrowse link 8 28,023,401 28,044,967 RGD:10402751
G Acadm acyl-CoA dehydrogenase medium chain JBrowse link 2 260,124,418 260,148,589 RGD:10402751
G Acads acyl-CoA dehydrogenase short chain JBrowse link 12 47,254,503 47,263,747 RGD:10402751
G Acadsb acyl-CoA dehydrogenase, short/branched chain JBrowse link 1 201,981,362 202,022,771 RGD:10402751
G Acat1 acetyl-CoA acetyltransferase 1 JBrowse link 8 58,166,990 58,195,884 RGD:10402751
G Aldh2 aldehyde dehydrogenase 2 family member JBrowse link 12 40,466,418 40,498,813 RGD:10402751
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 JBrowse link 6 108,146,552 108,167,185 RGD:10402751
G Aox1 aldehyde oxidase 1 JBrowse link 9 64,929,682 65,007,872 RGD:10402751
G Auh AU RNA binding methylglutaconyl-CoA hydratase JBrowse link 17 12,310,178 12,405,224 RGD:10402751
G Bcat1 branched chain amino acid transaminase 1 JBrowse link 4 179,259,305 179,340,021 RGD:10402751
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha JBrowse link 1 82,423,291 82,452,094 RGD:10402751
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta JBrowse link 8 91,464,229 91,656,134 RGD:10402751
G Dbt dihydrolipoamide branched chain transacylase E2 JBrowse link 2 219,563,783 219,592,651 RGD:10402751
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:10402751
G Echs1 enoyl-CoA hydratase, short chain 1 JBrowse link 1 212,570,213 212,579,040 RGD:10402751
G Hibadh 3-hydroxyisobutyrate dehydrogenase JBrowse link 4 82,604,369 82,702,429 RGD:10402751
G Hibch 3-hydroxyisobutyryl-CoA hydrolase JBrowse link 9 53,446,185 53,526,727 RGD:10402751
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase JBrowse link 5 154,294,841 154,308,582 RGD:10402751
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 JBrowse link 2 200,452,623 200,480,785 RGD:10402751
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 JBrowse link X 21,696,796 21,699,241 RGD:10402751
G Ivd isovaleryl-CoA dehydrogenase JBrowse link 3 110,669,355 110,689,789 RGD:10402751
G Mccc1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 2 122,550,777 122,690,540 RGD:10402751
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:10402751
G Mcee methylmalonyl CoA epimerase JBrowse link 1 125,229,487 125,252,692 RGD:10402751
G Mmut methylmalonyl-CoA mutase JBrowse link 9 23,323,934 23,352,144 RGD:10402751
G Oxct1 3-oxoacid CoA transferase 1 JBrowse link 2 53,859,738 54,007,733 RGD:10402751
G Pcca propionyl-CoA carboxylase subunit alpha JBrowse link 15 108,960,509 109,306,879 RGD:10402751
G Pccb propionyl-CoA carboxylase subunit beta JBrowse link 8 109,368,887 109,418,871 RGD:10402751

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6016
    disease pathway 1947
      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
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.