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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 (

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 chr  X:143,275,165...143,295,283
Ensembl chr  X:153,162,412...153,182,424
JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chr12:49,082,122...49,158,524
Ensembl chr12:49,941,914...50,011,140
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00517 NCBI chr 4:176,920,811...176,991,495
Ensembl chr 4:189,145,403...189,198,646
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
JBrowse link
G CRAT carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chr 9:100,220,019...100,236,061
Ensembl chr 9:128,880,057...128,896,484
JBrowse link
G CROT carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chr 7:79,339,498...79,393,676
Ensembl chr 7:92,989,868...93,043,832
JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chr19:6,763,676...6,782,075
Ensembl chr19:7,626,021...7,639,174
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chr2A:61,108,970...61,143,615
Ensembl chr2A:62,250,887...62,285,151
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chr 1:9,234,928...9,391,086
Ensembl chr 1:10,459,884...10,614,187
JBrowse link
G SLC25A20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chr 3:48,782,960...48,824,616
Ensembl chr 3:49,863,259...49,901,839
JBrowse link

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  pathway 4035
    disease pathway 700
      nutritional and metabolic disease pathway 571
        metabolic disease pathway 533
          lipid metabolism disease pathway 93
            inborn error of lipid metabolism pathway 93
              carnitine-acylcarnitine translocase deficiency 10
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