CYP17A1

Gene Information
 
Gene Symbol
CYP17A1
 
Aliases
CPT7, CYP17, P450C17, S17AH
 
Entrez Gene ID
 
Gene Name
Cytochrome P450, family 17, subfamily A, polypeptide 1
 
Chromosomal Location
10q24.3
 
HGNC ID
 
Summary
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 endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. (provided by RefSeq)
 
GeneCards ID
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006694 Biological process Steroid biosynthetic process TAS 3500022
GO:0007548 Biological process Sex differentiation TAS 9326943
GO:0008202 Biological process Steroid metabolic process EXP 15583024
GO:0005789 Cellular component Endoplasmic reticulum membrane EXP 10406467
GO:0019825 Molecular function Oxygen binding TAS 2808364
Protein Information
 
Protein Name
Steroid 17-alpha-hydroxylase/17,20 lyase
 
Function
Conversion of pregnenolone and progesterone to their 17-alpha-hydroxylated products and subsequently to dehydroepiandrosterone (DHEA) and androstenedione. Catalyzes both the 17-alpha-hydroxylation and the 17,20-lyase reaction. Involved in sexual development during fetal life and at puberty
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00067 p450 Cytochrome P450
 
KEGG
 
OMIM
 
Phenotype MIM ID
 
Interactions
STRING MINT I2D
ENSP00000358903 P05093

Associated Diseases

Diseases References
Adrenal tumor 19564722, 9392354
Aldosteronism primary 1820978
Antley-bixler syndrome 15483095
Apeced 9030872, 7523005, 11524733
Cancer (adenoma) 1835446, 1820978, 9851803, 11857908, 11592817, 9625451, 19755404, 1535042, 8370688, 11572038, 1835446, 11196414, 11592817, 9625451, 17408424, 12608705, 17541216, 1535042, 12943735, 1820978, 11572038
   
References
 
Primary:

Polymorphism T --> C (-34 base pairs) of gene CYP17 promoter in women with polycystic ovary syndrome is associated with increased body weight and insulin resistance: a preliminary study.

Echiburu Barbara, Perez-Bravo Francisco, Maliqueo Manuel, Sanchez Fernando, Crisosto Nicolas, Sir-Petermann Teresa
Laboratory of Endocrinology, Department of Medicine, School of Medicine, San Juan de Dios Hospital. University of Chile, Santiago 8320000, Chile.
Metabolism. 2008 Dec;57(12):1765-71.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
CYP11alpha 
 
216- allele 
 
Related 
123 (65 PCOS, 58 controls) 
The results suggest that both alleles play a minor role in the development of PCOS and could be a genetic risk marker of the hyperandrogenic phenotype 
CYP11A1,androstenedione,17alpha-hydroxyprogesterone, and DHEAS 
 
Polymorphism in CYP17 promoter 
Rotterdam criteria 
Related 
India-100 PCOS and 100 controls 
The study carried out in a defined group of Indian women with PCOS suggests for the first time an individual, as well as combined, association of polymorphisms in CYP11A1 and CYP17 promoters with T levels. 
 
 
Variant in gene 
 
Related 
134 Korean women with PCOS and 100 healthy women as controls 
The frequency of seven SNPs had no significant association with PCOS. However, one haplotype (ht3) had a p-value of p=0.001, suggesting that it may be associated with the pathogenesis of PCOS in a Korean population. 
 
 
 
NICHD criteria 
Related 
259 consecutive unselected white patients with PCOS and 161 control  
It does not appear that this common variant of CYP17, a T to C substitution in the 5' promoter region, plays a significant role in the adrenal androgen excess of PCOS. 
CYP11A1 
 
 
 
Related 
 
Activity of CYP17 and CYP11A, was increased in the PCOS compared to normal theca cells 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
26357661, PMC4556819
Paracrine Regulation of Steroidogenesis in Theca Cells by Granulosa Cells Derived from Mouse Preantral Follicles. 
Animal study 
25887459, PMC4414284
Polycystic ovarian syndrome is accompanied by repression of gene signatures associated with biosynthesis and metabolism of steroids, cholesterol and lipids. 
Clinical study 
25823942
Epigenetic pattern changes in prenatal female Sprague-Dawley rats following exposure to androgen. 
Animal study 
25623143
Differences in neonatal exposure to estradiol or testosterone on ovarian function and hormonal levels. 
Effect of treatment 
25211419
Immunohistochemical evaluation of proliferation, apoptosis and steroidogenic enzymes in the ovary of rats with polycystic ovary. 
Animal study 

 

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