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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-acylcarnitine translocase deficiency
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Accession:PW:0002506 term browser browse the term
Definition:A rare autosomal recessive condition resulting from alteration in long-fatty acid oxidation and due to defects in the SLC25A20 gene.
Synonyms:related_synonym: SMP:00517


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carnitine-acylcarnitine translocase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO SMPDB SMP:00517 NCBI chrNW_004936809:615,133...634,618 JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chrNW_004936607:1,292,964...1,345,671 JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00517 NCBI chrNW_004936554:4,425,518...4,484,853 JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chrNW_004936522:7,858,172...7,875,679 JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chrNW_004936487:16,523,571...16,537,242 JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chrNW_004936763:1,425,394...1,462,638 JBrowse link
G LOC101959362 peroxisomal membrane protein PEX14 ISO SMPDB SMP:00517 NCBI chrNW_004936623:4,313,186...4,462,462 JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chrNW_004936588:4,574,220...4,580,195 JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chrNW_004936491:6,530,385...6,559,706 JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chrNW_004936529:607,035...631,872 JBrowse link

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  pathway 3946
    disease pathway 686
      nutritional and metabolic disease pathway 557
        metabolic disease pathway 522
          lipid metabolism disease pathway 93
            inborn error of lipid metabolism pathway 93
              carnitine-acylcarnitine translocase deficiency 10
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