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: 2-aminoadipic 2-oxoadipic aciduria pathway
Accession: PW:0002204
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Definition: An inherited condition resulting from alterations in lysine metabolism. Mutations in the DHTKD1 gene, encoding an enzyme involved in the lysine degradation pathway, have been associated with the condition.
Synonyms: exact_synonym: 2-aminoadipic 2-oxoadipic aciduria disease pathway
related_synonym: SMP:00719
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AADAT
aminoadipate aminotransferase
EXP
SMPDB
SMP:00719
NCBI chr 4:170,060,222...170,094,292
Ensembl chr 4:170,060,222...170,091,699
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AASS
aminoadipate-semialdehyde synthase
EXP
SMPDB
SMP:00719
NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308
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ACAT1
acetyl-CoA acetyltransferase 1
EXP
SMPDB
SMP:00719
NCBI chr11:108,116,705...108,147,603
Ensembl chr11:108,116,695...108,147,603
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ALDH7A1
aldehyde dehydrogenase 7 family member A1
EXP
SMPDB
SMP:00719
NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362
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DHTKD1
dehydrogenase E1 and transketolase domain containing 1
EXP
SMPDB
SMP:00719
NCBI chr10:12,068,954...12,123,221
Ensembl chr10:12,068,954...12,123,221
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DLD
dihydrolipoamide dehydrogenase
EXP
SMPDB
SMP:00719
NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730
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DLST
dihydrolipoamide S-succinyltransferase
EXP
SMPDB
SMP:00719
NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743
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ECHS1
enoyl-CoA hydratase, short chain 1
EXP
SMPDB
SMP:00719
NCBI chr10:133,362,485...133,373,354
Ensembl chr10:133,362,485...133,373,354
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GCDH
glutaryl-CoA dehydrogenase
EXP
SMPDB
SMP:00719
NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207
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HADH
hydroxyacyl-CoA dehydrogenase
EXP
SMPDB
SMP:00719
NCBI chr 4:107,989,889...108,035,171
Ensembl chr 4:107,989,714...108,035,241
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PIPOX
pipecolic acid and sarcosine oxidase
EXP
SMPDB
SMP:00719
NCBI chr17:29,043,141...29,057,216
Ensembl chr17:28,950,513...29,057,216
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SLC25A2
solute carrier family 25 member 2
EXP
SMPDB
SMP:00719
NCBI chr 5:141,302,635...141,304,049
Ensembl chr 5:141,302,635...141,304,049
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SLC7A2
solute carrier family 7 member 2
EXP
SMPDB
SMP:00719
NCBI chr 8:17,494,069...17,570,566
Ensembl chr 8:17,497,088...17,570,573
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