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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 EXP SMPDB SMP:00139 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 EXP SMPDB SMP:00139 NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 EXP SMPDB SMP:00139 NCBI chr11:134,253,538...134,265,858
Ensembl chr11:134,253,548...134,265,855
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00139 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00139 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain EXP SMPDB SMP:00139 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00139 NCBI chr11:108,116,705...108,148,822
Ensembl chr11:108,116,695...108,147,603
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member EXP SMPDB SMP:00139 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 EXP SMPDB SMP:00139 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492
JBrowse link
G AOX1 aldehyde oxidase 1 EXP SMPDB SMP:00139 NCBI chr 2:200,585,952...200,677,064
Ensembl chr 2:200,586,014...200,677,064
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase EXP SMPDB SMP:00139 NCBI chr 9:91,213,823...91,361,945
Ensembl chr 9:91,213,815...91,361,918
JBrowse link
G BCAT1 branched chain amino acid transaminase 1 EXP SMPDB SMP:00139 NCBI chr12:24,810,024...24,949,101
Ensembl chr12:24,810,024...24,949,101
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha EXP SMPDB SMP:00139 NCBI chr19:41,397,818...41,425,002
Ensembl chr19:41,397,808...41,425,002
JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta EXP SMPDB SMP:00139 NCBI chr 6:80,106,610...80,469,088
Ensembl chr 6:80,106,647...80,346,270
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 EXP SMPDB SMP:00139 NCBI chr 1:100,186,919...100,249,864
Ensembl chr 1:100,186,919...100,249,834
JBrowse link
G DLD dihydrolipoamide dehydrogenase EXP SMPDB SMP:00139 NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 EXP SMPDB SMP:00139 NCBI chr10:133,362,480...133,373,396
Ensembl chr10:133,362,485...133,373,354
JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase EXP SMPDB SMP:00139 NCBI chr 7:27,525,440...27,662,903
Ensembl chr 7:27,525,442...27,662,883
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase EXP SMPDB SMP:00139 NCBI chr 2:190,203,920...190,319,826
Ensembl chr 2:190,189,735...190,344,193
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase EXP SMPDB SMP:00139 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 EXP SMPDB SMP:00139 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 EXP SMPDB SMP:00139 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370
JBrowse link
G IVD isovaleryl-CoA dehydrogenase EXP SMPDB SMP:00139 NCBI chr15:40,405,787...40,435,948
Ensembl chr15:40,405,485...40,435,947
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 EXP SMPDB SMP:00139 NCBI chr 3:183,015,218...183,099,587
Ensembl chr 3:183,015,218...183,116,075
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 EXP SMPDB SMP:00139 NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,579,531...71,658,706
JBrowse link
G MCEE methylmalonyl-CoA epimerase EXP SMPDB SMP:00139 NCBI chr 2:71,109,684...71,130,288
Ensembl chr 2:71,109,684...71,130,239
JBrowse link
G MMUT methylmalonyl-CoA mutase EXP SMPDB SMP:00139 NCBI chr 6:49,430,360...49,463,298
Ensembl chr 6:49,430,360...49,463,253
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 EXP SMPDB SMP:00139 NCBI chr 5:41,730,065...41,870,535
Ensembl chr 5:41,730,065...41,870,425
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha EXP SMPDB SMP:00139 NCBI chr13:100,089,020...100,530,435
Ensembl chr13:100,089,015...100,530,437
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta EXP SMPDB SMP:00139 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 5957
    disease pathway 2076
      congenital disease pathway 536
        inborn genetic disease pathway 536
          inborn error of metabolism pathway 536
            3-methylglutaconic aciduria type 1 pathway 30
paths to the root