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Gene: CYP11A1 (cytochrome P450 family 11 subfamily A member 1) Homo sapiens
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Symbol: CYP11A1
Name: cytochrome P450 family 11 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 protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cholesterol 20-22 desmolase; cholesterol desmolase; cholesterol monooxygenase (side-chain cleaving); cholesterol monooxygenase (side-chain-cleaving); cholesterol side-chain cleavage enzyme, mitochondrial; CYP11A; CYPXIA1; cytochrome P450 11A1; cytochrome P450 family 11 subfamily A polypeptide 1; cytochrome P450(scc); cytochrome P450, family 11, subfamily A, polypeptide 1; cytochrome p450, subfamily 11a; cytochrome P450, subfamily XIA (cholesterol side chain cleavage); cytochrome P450C11A1; P450SCC; steroid 20-22-lyase
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381574,337,762 - 74,367,740 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371574,630,103 - 74,660,081 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361572,417,156 - 72,447,134 (-)NCBINCBI36hg18NCBI36
Build 341572,417,156 - 72,447,020NCBI
Celera1551,578,744 - 51,607,311 (-)NCBI
Cytogenetic Map15q24.1NCBI
HuRef1551,425,968 - 51,455,911 (-)NCBIHuRef
CHM1_11574,748,248 - 74,778,221 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
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References - uncurated
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Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CYP11A1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 735631
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.