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PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (http://rgd.mcw.edu/contact/index.shtml).

Term:3-methylglutaconic aciduria type 1 pathway
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Accession:PW:0002274 term browser browse the term
Definition:A rare autosomal recessive condition resulting from alterations in leucine metabolism.
Synonyms:exact_synonym: 3-methylglutaconyl-CoA hydratase deficiency pathway;   3MG-CoA hydratase deficiency pathway;   MGA type I pathway;   MGA1 pathway;   type I 3-Methylglutaconic aciduria disease pathway;   type I 3-Methylglutaconic aciduria pathway
 related_synonym: SMP:00139


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3-methylglutaconic aciduria type 1 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00139 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,965...34,015,469
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00139 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,280,800...99,332,381
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00139 NCBI chr 9:60,807,405...60,828,379 JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00139 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00139 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,624,213...40,659,928
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00139 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00139 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00139 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00139 NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,357,952...97,381,841
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00139 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,153,702...104,238,400
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00139 NCBI chr14:2,398,456...2,546,329
Ensembl chr14:2,398,462...2,546,320
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00139 NCBI chr 5:48,814,212...48,925,632
Ensembl chr 5:48,814,300...48,925,976
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00139 NCBI chr 6:49,381,995...49,398,745 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00139 NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,715,203...86,017,600
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00139 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,937,561
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00139 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00139 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,335,990...141,349,030
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00139 NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00139 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,785,453...94,941,381
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00139 NCBI chr 6:81,611,516...81,630,454
Ensembl chr 6:81,611,422...81,630,530
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00139 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,545...46,220,944
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00139 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
G LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO SMPDB SMP:00139 NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00139 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,912,828...121,106,666
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00139 NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,540
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00139 NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,731...144,024,879
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00139 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,292...43,624,609
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00139 NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,396...26,659,845
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00139 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,301,533
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00139 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,317,497
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4030
    disease pathway 710
      congenital disease pathway 518
        inborn genetic disease pathway 518
          inborn error of metabolism pathway 518
            3-methylglutaconic aciduria type 1 pathway 30
paths to the root