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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, sub-family D (ALD), member 1 ISO SMPDB SMP:00517 NCBI chr  X:73,716,597...73,738,534
Ensembl chr  X:73,716,597...73,738,534
JBrowse link
G Abcd2 ATP-binding cassette, sub-family D (ALD), member 2 ISO SMPDB SMP:00517 NCBI chr15:91,145,871...91,192,007
Ensembl chr15:91,145,871...91,191,799
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO SMPDB SMP:00517 NCBI chr 8:46,471,037...46,536,051
Ensembl chr 8:46,471,037...46,536,051
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO SMPDB SMP:00517 NCBI chr 4:107,903,982...107,923,589
Ensembl chr 4:107,903,981...107,923,610
JBrowse link
G Crat carnitine acetyltransferase ISO SMPDB SMP:00517 NCBI chr 2:30,400,476...30,416,017
Ensembl chr 2:30,400,471...30,415,813
JBrowse link
G Crot carnitine O-octanoyltransferase ISO SMPDB SMP:00517 NCBI chr 5:8,966,033...8,997,146
Ensembl chr 5:8,966,033...8,997,324
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO SMPDB SMP:00517 NCBI chr 8:3,457,105...3,467,648
Ensembl chr 8:3,457,105...3,467,680
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO SMPDB SMP:00517 NCBI chr11:23,646,843...23,665,883
Ensembl chr11:23,646,479...23,665,959
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO SMPDB SMP:00517 NCBI chr 4:148,960,535...149,099,843
Ensembl chr 4:148,960,535...149,099,876
JBrowse link
G Slc25a20 solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20 ISO SMPDB SMP:00517 NCBI chr 9:108,662,136...108,684,642
Ensembl chr 9:108,662,088...108,684,641
JBrowse link

Term paths to the root
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Term Annotations click to browse term
  pathway 6066
    disease pathway 2094
      nutritional and metabolic disease pathway 700
        metabolic disease pathway 660
          lipid metabolism disease pathway 95
            inborn error of lipid metabolism pathway 95
              carnitine-acylcarnitine translocase deficiency 10
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