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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 (https://rgd.mcw.edu/rgdweb/contact/contactus.html).
Term:carnitine palmitoyltransferase I deficiency pathway
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Accession:PW:0002574 term browser browse the term
Definition:An autosomal recessive disorder resulting from alterations in long chain fatty acid oxidation due to defects in the carnitine palmitoyltransferase 1A (CPT1A) enzyme.
Synonyms:exact_synonym: carnitine palmitoyl transferase deficiency type I pathway
 related_synonym: SMP:00538


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carnitine palmitoyltransferase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00538 NCBI chr18:70,620,310...70,648,417
Ensembl chr18:70,620,110...70,648,420 		JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO SMPDB SMP:00538 NCBI chr 9:75,783,689...75,822,077
Ensembl chr 9:75,783,689...75,822,164 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00538 NCBI chr 2:245,518,693...245,542,864
Ensembl chr 2:245,518,693...245,542,864 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00538 NCBI chr12:47,154,259...47,163,580
Ensembl chr12:47,154,276...47,164,103 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00538 NCBI chr 1:195,619,088...195,660,564
Ensembl chr 1:195,619,038...195,660,561 		JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO SMPDB SMP:00538 NCBI chr10:55,231,558...55,236,786
Ensembl chr10:55,231,440...55,236,750 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chr 8:62,876,003...62,905,080
Ensembl chr 8:62,876,003...62,905,042 		JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00538 NCBI chr16:52,487,870...52,554,110
Ensembl chr16:52,487,870...52,554,023 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chr 1:209,993,881...210,056,329
Ensembl chr 1:209,993,875...210,056,326 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chr 5:127,893,450...127,911,347
Ensembl chr 5:127,893,207...127,910,818 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 NCBI chr 1:204,324,679...204,333,506
Ensembl chr 1:204,324,682...204,333,506 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chr19:40,168,038...40,174,536
Ensembl chr19:40,168,141...40,175,686 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chr 6:31,907,801...31,947,434
Ensembl chr 6:31,907,291...31,947,698 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chr 6:31,873,404...31,907,557
Ensembl chr 6:31,873,404...31,907,835 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6091
    disease pathway 1954
      nutritional and metabolic disease pathway 709
        metabolic disease pathway 666
          lipid metabolism disease pathway 95
            inborn error of lipid metabolism pathway 95
              carnitine palmitoyltransferase I deficiency pathway 14
paths to the root