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Pathways
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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: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 chr 1:99,284,467...99,310,759
Ensembl chr 1:99,284,140...99,311,321 		JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO SMPDB SMP:00538 NCBI chr15:112,935,631...112,969,381
Ensembl chr15:112,933,506...112,969,577 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00538 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,381...137,595,108 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00538 NCBI chr14:40,642,810...40,656,922
Ensembl chr14:40,642,881...40,659,081 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00538 NCBI chr14:132,563,002...132,607,574
Ensembl chr14:132,563,309...132,626,841 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO SMPDB SMP:00538 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,402...52,581,748 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00538 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633 		JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00538 NCBI chr15:45,866,858...45,936,327
Ensembl chr15:45,866,857...45,963,729 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO SMPDB SMP:00538 NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,911 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00538 NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,422...159,061,327 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00538 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,339,364...141,348,994 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO SMPDB SMP:00538 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO SMPDB SMP:00538 NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,733 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO SMPDB SMP:00538 NCBI chr 3:112,712,894...112,753,121
Ensembl chr 3:112,704,024...112,753,086 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4047
    disease pathway 712
      nutritional and metabolic disease pathway 574
        metabolic disease pathway 535
          lipid metabolism disease pathway 94
            inborn error of lipid metabolism pathway 94
              carnitine palmitoyltransferase I deficiency pathway 14
paths to the root