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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:methylmalonic acidemia pathway
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Accession:PW:0001810 term browser browse the term
Definition:An inherited condition resulting from alterations in the metabolic pathway whereby methylmalonyl-coenzyme A (CoA) is converted into succinyl-CoA.
Synonyms:exact_synonym: methylmalonic acidemia disease pathway
 related_synonym: SMP:00200;   methylmalonic aciduria disease pathway


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methylmalonic acidemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00200 NCBI chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00200 NCBI chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00200 NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00200 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00200 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00200 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00200 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00200 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00200 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00200 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00200 NCBI chr 9:62,269,809...62,420,577 JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00200 NCBI chr12:61,364,154...61,500,827
Ensembl chr12:63,978,116...64,107,463
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00200 NCBI chr19:38,391,618...38,418,826 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00200 NCBI chr 6:78,005,287...78,246,287
Ensembl chr 6:81,276,836...81,516,787
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00200 NCBI chr 1:102,852,585...102,907,146
Ensembl chr 1:101,567,551...101,621,850
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00200 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00200 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00200 NCBI chr 7:28,166,127...28,299,845
Ensembl chr 7:27,763,021...27,896,598
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00200 NCBI chr2B:77,510,938...77,652,911 JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00200 NCBI chr 1:22,993,489...23,017,307
Ensembl chr 1:23,977,723...24,001,150
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00200 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00200 NCBI chr  X:45,645,849...45,649,039
Ensembl chr  X:53,754,164...53,757,643
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00200 NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00200 NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00200 NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00200 NCBI chr2A:71,154,176...71,176,679
Ensembl chr2A:72,656,860...72,677,401
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00200 NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00200 NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00200 NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00200 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270
JBrowse link
methylmalonic aciduria, cobalamin-related pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO SMPDB SMP:00201 NCBI chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ACACA acetyl-CoA carboxylase alpha ISO SMPDB SMP:00201 NCBI chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00201 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00201 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ACSS1 acyl-CoA synthetase short chain family member 1 ISO SMPDB SMP:00201 NCBI chr20:24,946,629...25,001,311
Ensembl chr20:25,293,511...25,349,017
JBrowse link
G ACSS3 acyl-CoA synthetase short chain family member 3 ISO SMPDB SMP:00201 NCBI chr12:78,586,987...78,771,478
Ensembl chr12:81,698,875...81,878,325
JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00201 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00201 NCBI chr19:38,391,618...38,418,826 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00201 NCBI chr 6:78,005,287...78,246,287
Ensembl chr 6:81,276,836...81,516,787
JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00201 NCBI chr 1:102,852,585...102,907,146
Ensembl chr 1:101,567,551...101,621,850
JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00201 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00201 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00201 NCBI chr2B:77,510,938...77,652,911 JBrowse link
G LDHAL6B lactate dehydrogenase A like 6B ISO SMPDB SMP:00201 NCBI chr15:38,176,451...38,179,189
Ensembl chr15:56,484,343...56,485,488
JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00201 NCBI chr2A:71,154,176...71,176,679
Ensembl chr2A:72,656,860...72,677,401
JBrowse link
G MLYCD malonyl-CoA decarboxylase ISO SMPDB SMP:00201 NCBI chr16:64,520,860...64,537,955
Ensembl chr16:83,912,793...83,929,162
JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00201 NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00201 NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00201 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4036
    disease pathway 700
      congenital disease pathway 517
        inborn genetic disease pathway 517
          inborn error of metabolism pathway 517
            inborn error of amino acid metabolism pathway 226
              methylmalonic acidemia pathway 35
                methylmalonic aciduria, cobalamin-related pathway 19
paths to the root