Gene

CYP7A1

Species
Homo sapiens
Symbol
CYP7A1
Name
cytochrome P450 family 7 subfamily A member 1
Synonyms
  • 24-hydroxycholesterol 7-alpha-hydroxylase
  • cholesterol 7-alpha-hydroxylase
Biotype
protein coding gene
Automated Description
Enables cholesterol 7-alpha-monooxygenase activity. Involved in bile acid biosynthetic process; cellular response to glucose stimulus; and regulation of bile acid biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in intracellular membrane-bounded organelle. Biomarker of metabolic dysfunction-associated steatohepatitis.
RGD 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 in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24304
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
58.491M58.492M58.493M58.494M58.495M58.496M58.497M58.498M58.499M58.500M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions