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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:121,545,690...121,564,117
Ensembl chr  X:121,545,586...121,563,186
JBrowse link
G ABCD2 ATP binding cassette subfamily D member 2 ISO SMPDB SMP:00517 NCBI chr27:14,015,093...14,084,362
Ensembl chr27:14,015,091...14,163,312
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO SMPDB SMP:00517 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809
JBrowse link
G CRAT carnitine O-acetyltransferase ISO SMPDB SMP:00517 NCBI chr 9:54,566,708...54,580,301
Ensembl chr 9:54,566,407...54,580,025
JBrowse link
G CROT carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chr14:13,475,130...13,532,536
Ensembl chr14:13,475,235...13,532,536
JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chr20:52,284,674...52,292,922
Ensembl chr20:52,282,762...52,292,888
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chr10:61,113,213...61,130,157
Ensembl chr10:61,123,655...61,193,241
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chr 2:85,224,376...85,362,684
Ensembl chr 2:85,224,365...85,389,069
JBrowse link
G SLC25A20 solute carrier family 25 member 20 ISO SMPDB SMP:00517 NCBI chr20:40,244,222...40,271,100
Ensembl chr20:40,244,229...40,270,433
JBrowse link

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  pathway 4028
    disease pathway 712
      nutritional and metabolic disease pathway 572
        metabolic disease pathway 532
          lipid metabolism disease pathway 93
            inborn error of lipid metabolism pathway 93
              carnitine-acylcarnitine translocase deficiency 10
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