CYP27A1
Sign in to saveAlso known as CP27, CTX, CYP27, cytochrome P450 family 27 subfamily A member 1
CYP27A1 is a gene encoding a cytochrome P450 oxidase, and is commonly known as sterol 27-hydroxylase. This enzyme is located in many different tissues where it is found within the mitochondria. It is most prominently involved in the biosynthesis of bile acids.
Gene data
CYP27A1- Name
- cytochrome P450 family 27 subfamily A member 1
- Type
- protein-coding
- Position
- 218,781,688–218,825,335 (+)
- Aliases
- CP27, CTX, CYP27
- Ensembl
- ENSG00000135929
- RefSeq RNA
- NM_000784.4
- RefSeq protein
- NP_000775.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
cytochrome P450 family 27 subfamily A member 1
- Symbol
- CYP27A1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:218,781,688-218,825,335
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~2 min read
Encyclopedic overview
7 sectionsContents
- Function
- Clinical significance
- Interactive pathway map
- See also
- References
- Further reading
- External links
CYP27A1 is a gene encoding a cytochrome P450 oxidase, and is commonly known as sterol 27-hydroxylase. This enzyme is located in many different tissues where it is found within the mitochondria. It is most prominently involved in the biosynthesis of bile acids.
== Function == CYP27A1 participates in the degradation of cholesterol to bile acids in both the classic and acidic pathways. It is the initiating enzyme in the acidic pathway to bile acids, yielding oxysterols by introducing a hydroxyl group to the carbon at the 27 position in cholesterol. In the acidic pathway, it produces 27-hydroxycholesterol from cholesterol whereas in the classic or neutral pathway, it produces 3β-hydroxy-5-cholestenoic acid.
Excerpted from Wikipedia’s “CYP27A1” article, available under the CC BY-SA 4.0 licence.