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Gene : CYP27A1 Homo sapiens

Name  ? cytochrome P450 family 27 subfamily A member 1 Cytological Location  2q35
Brief Description  cytochrome P450 family 27 subfamily A member 1
Description  This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]
  • synonyms:
  • CYP27A1,
  • CP27,
  • CTX,
  • CTX,
  • uc002viz.5,
  • CYP27,
  • NM_000784,
  • HGNC:2605,
  • BC017044,
  • OTTHUMG00000048238,
  • CYP27,
  • cytochrome P450, family 27, subfamily A, polypeptide 1,
  • cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1,
  • cerebrotendinous xanthomatosis,
  • CP27
  • identifiers:
  • 1593,
  • ENSG00000135929,
  • CYP27A1

Genome feature

Region: gene ? Length: 33561  
Location: 2:218781733-218815293 Cyto location: 2q35

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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3740 SNPs

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results