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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_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chrNW_004955505:717,800...769,702
Ensembl chrNW_004955505:721,222...798,470
JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00517 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
G Crat carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chrNW_004955570:1,417,608...1,428,720
Ensembl chrNW_004955570:1,417,608...1,428,720
JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chrNW_004955607:379,121...413,394
Ensembl chrNW_004955607:378,439...413,394
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chrNW_004955563:1,737,560...1,743,854
Ensembl chrNW_004955563:1,737,560...1,743,854
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chrNW_004955424:22,799,568...22,830,718
Ensembl chrNW_004955424:22,799,568...22,830,718
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chrNW_004955486:2,981,026...3,129,721
Ensembl chrNW_004955486:2,980,700...3,129,721
JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chrNW_004955532:902,937...933,675
Ensembl chrNW_004955532:902,937...921,174
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 3928
    disease pathway 675
      nutritional and metabolic disease pathway 546
        metabolic disease pathway 514
          lipid metabolism disease pathway 92
            inborn error of lipid metabolism pathway 92
              carnitine-acylcarnitine translocase deficiency 10
paths to the root