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Gene : CYP7B1 Homo sapiens

Name  ? cytochrome P450 family 7 subfamily B member 1 Cytological Location  8q12.3
Brief Description  cytochrome P450 family 7 subfamily B 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 endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]
  • synonyms:
  • spastic paraplegia 5A (autosomal recessive),
  • NM_001324112,
  • CP7B,
  • CBAS3,
  • SPG5A,
  • cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1,
  • AF029403,
  • SPG5A,
  • uc003xvj.3,
  • HGNC:2652,
  • cytochrome P450, family 7, subfamily B, polypeptide 1,
  • OTTHUMG00000164387,
  • CYP7B1
  • identifiers:
  • 9420,
  • ENSG00000172817,
  • CYP7B1

Genome feature

Region: gene ? Length: 212163  
Location: 8:64586575-64798737 reverse strand Cyto location: 8q12.3


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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

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SNPs

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Disease

2 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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Expression

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Other

813 SN Ps

5 Cross References

20 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results