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Pathways
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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:cerebrotendinous xanthomatosis pathway
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Accession:PW:0001475 term browser browse the term
Definition:The cerebrotendinous type of xanthomatosis is caused by mutation in the CYP27A1 gene - a sterol hydrolase involved in the oxidation of side chain sterol intermediates. It affects many tissues, predominantly the brain and lungs.
Synonyms:exact_synonym: cerebrotendinous xanthomatosis disease pathway
 related_synonym: CTX disease pathway;   SMP:00315

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cerebrotendinous xanthomatosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO SMPDB SMP:00315 NCBI chrNW_004936473:2,494,568...2,525,956
Ensembl chrNW_004936473:2,494,554...2,526,787 		JBrowse link
G Akr1d1 aldo-keto reductase family 1 member D1 ISO SMPDB SMP:00315 NCBI chrNW_004936592:2,486,219...2,522,796
Ensembl chrNW_004936592:2,491,681...2,522,796 		JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00315 NCBI chrNW_004936518:7,072,436...7,088,927
Ensembl chrNW_004936518:7,072,403...7,088,929 		JBrowse link
G Baat bile acid-CoA:amino acid N-acyltransferase ISO SMPDB SMP:00315 NCBI chrNW_004936524:9,536,032...9,544,901
Ensembl chrNW_004936524:9,536,010...9,545,076 		JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004936601:5,015,922...5,016,942
Ensembl chrNW_004936601:5,015,219...5,160,908 		JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO SMPDB SMP:00315 NCBI chrNW_004936715:2,357,215...2,446,601
Ensembl chrNW_004936715:2,357,274...2,446,271 		JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00315 NCBI chrNW_004936501:13,363,630...13,367,553
Ensembl chrNW_004936501:13,363,576...13,367,553 		JBrowse link
G LOC101955077 cytochrome P450 7B1 ISO SMPDB SMP:00315 NCBI chrNW_004936496:8,900,320...9,072,109
Ensembl chrNW_004936496:8,899,965...9,072,089 		JBrowse link
G LOC101961079 cholesterol 24-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004936604:3,451,853...3,490,688
Ensembl chrNW_004936604:3,451,842...3,491,159 		JBrowse link
G LOC101963150 sterol 26-hydroxylase, mitochondrial ISO SMPDB SMP:00315 NCBI chrNW_004936569:1,213,700...1,250,181
Ensembl chrNW_004936569:1,213,573...1,250,589 		JBrowse link
G LOC101970910 cytochrome P450 7A1 ISO SMPDB SMP:00315 NCBI chrNW_004936496:4,599,138...4,605,653
Ensembl chrNW_004936496:4,599,138...4,605,653 		JBrowse link
G LOC101972335 24-hydroxycholesterol 7-alpha-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004936476:13,697,598...13,819,362
Ensembl chrNW_004936476:13,697,583...13,819,109 		JBrowse link
G LOC101977223 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase ISO SMPDB SMP:00315 NCBI chrNW_004936695:2,263,868...2,265,373
Ensembl chrNW_004936695:2,263,868...2,265,373 		JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00315 NCBI chrNW_004936522:8,004,503...8,110,995
Ensembl chrNW_004936522:8,005,442...8,110,889 		JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00315 NCBI chrNW_004937062:90,217...98,562
Ensembl chrNW_004937062:89,664...98,113 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 3951
    disease pathway 688
      nutritional and metabolic disease pathway 558
        metabolic disease pathway 523
          lipid metabolism disease pathway 93
            xanthomatosis pathway 15
              cerebrotendinous xanthomatosis pathway 15
paths to the root