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  3. CYP17A1

CYP17A1 (Cytochrome P450 family 17 subfamily A member 1)

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Summary of CYP17A1

This gene encodes a protein that is responsible for the formation of steroid hormones. Mutations of this gene are associated with high blood pressure and abnormal sexual development (R). 

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The Function of CYP17A1

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.

Protein names

Recommended name:

Steroid 17-alpha-hydroxylase/17,20 lyase

Short name:

CYPXVII

Alternative name(s):

17-alpha-hydroxyprogesterone aldolase
Cytochrome P450 17A1
Cytochrome P450-C17
Cytochrome P450c17
Steroid 17-alpha-monooxygenase

CYP17A1 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS1004467 (CYP17A1) ??
  2. RS11191416 (CYP17A1) ??
  3. RS11191419 (CYP17A1) ??
  4. RS17115100 (CYP17A1) ??
  5. RS2486758 (CYP17A1) ??
  6. RS3824755 (CYP17A1) ??
  7. RS6162 (CYP17A1) ??
  8. RS743572 (CYP17A1) ??

Top Gene-Substance Interactions

CYP17A1 Interacts with These Diseases

Disease Score

Substances That Increase CYP17A1

Substances Interaction Organism Category

Substances That Decrease CYP17A1

Substances Interaction Organism Category

Advanced Summary

     17 alpha-hydroxylase/17,20-lyase deficiency Dozens of mutations in the CYP17A1 gene have been found to cause 17α-hydroxylase/17,20-lyase deficiency. This condition affects the function of certain hormone-producing glands, leading to high blood pressure (hypertension) and abnormal sexual development. Mutations associated with this condition reduce or eliminate both 17α-hydroxylase and 17,20-lyase activity. Reduction of these activities leads to partial 17α-hydroxylase/17,20-lyase deficiency, while total loss of these activities leads to the more severe form of the disorder known as complete 17α-hydroxylase/17,20-lyase deficiency. Without 17α-hydroxylase activity, pregnenolone and progesterone are not converted to 17-hydroxypregnenolone or 17-hydroxyprogesterone, impairing production of glucocorticoids. Instead pregnenolone and progesterone are processed to form mineralocorticoids. An excess of these salt-regulating hormones leads to hypertension and low levels of potassium in the blood (hypokalemia). A loss of 17,20-lyase activity impairs sex hormone production. In females, a lack of female sex hormones disrupts development of internal reproductive organs (the ovaries and uterus) and secondary sex characteristics, such as breasts and menstrual periods. In chromosomal males (individuals with an X and a Y chromosome), a lack of male sex hormones leads to abnormal development of external genitalia. Depending on the severity of the condition, these affected individuals can have abnormal male genitalia, genitalia that do not look clearly male or clearly female (ambiguous genitalia), or characteristically female genitalia. other disorders A small number of CYP17A1 gene mutations have been found to cause isolated 17,20-lyase deficiency, which is characterized by abnormal sexual development without hypertension or hypokalemia. These mutations alter a region of the CYP17A1 protein that plays a role in the enzyme's 17,20-lyase function but not its 17α-hydroxylase function. As a result, 17,20-lyase activity is severely reduced but 17α-hydroxylase activity is normal. As in 17α-hydroxylase/17,20-lyase deficiency (described above), impairment of 17,20-lyase activity disrupts sex hormone production, leading to abnormal development of internal or external reproductive organs and delayed or absent puberty in affected individuals.

     The CYP17A1 gene provides instructions for making a member of the cytochrome P450 enzyme family. Like other cytochrome P450 enzymes, CYP17A1 is involved in the formation (synthesis) of steroid hormones. This group of hormones includes sex hormones such as testosterone and estrogen, which are needed for normal sexual development and reproduction; mineralocorticoids, which help regulate the body's salt and water balance; and glucocorticoids, which are involved in maintaining blood sugar levels and regulating the body's response to stress. Steroid hormones are synthesized through a series of chemical reactions. The CYP17A1 enzyme performs two important reactions in this process. The enzyme has 17 alpha(α)-hydroxylase activity, converting pregnenalone to 17-hydroxypregnenolone and progesterone to 17-hydroxyprogesterone. These hormone precursors are further processed to produce glucocorticoids and sex hormones. CYP17A1 also has 17,20-lyase activity, which converts 17-hydroxypregnenolone to dehydroepiandrosterone (DHEA). This reaction is integral to the production of sex hormones.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • PPAR-gamma1
  • PPAR-gamma2
  • GR
  • GR-alpha
  • AhR
  • C/EBPbeta
  • Sp1
  • SREBP-1a
  • SREBP-1c
  • SREBP-1b

Gene Pathways:

  • Metabolic pathways
  • Metabolism
  • Steroid hormone biosynthesis
  • Steroid hormones

Enzyme Regulation:

Regulated predominantly by intracellular cAMP levels.

Molecular Function:

  • 17-Alpha-Hydroxyprogesterone Aldolase Activity
  • Heme Binding
  • Iron Ion Binding
  • Oxygen Binding
  • Steroid 17-Alpha-Monooxygenase Activity

Biological Processes:

  • Androgen Biosynthetic Process
  • Glucocorticoid Biosynthetic Process
  • Hormone Biosynthetic Process
  • Progesterone Metabolic Process
  • Sex Differentiation
  • Steroid Biosynthetic Process
  • Steroid Metabolic Process
  • Sterol Metabolic Process
  • Adrenal Gland Development
  • Biphenyl Metabolic Process
  • Cellular Response To Antibiotic
  • Cellular Response To Gonadotropin Stimulus
  • Cellular Response To Lipopolysaccharide
  • Dibenzo-P-Dioxin Metabolic Process
  • Hippocampus Development
  • Leydig Cell Differentiation
  • Ovulation
  • Phenol-Containing Compound Metabolic Process
  • Phthalate Metabolic Process
  • Positive Regulation Of Steroid Hormone Biosynthetic Process
  • Response To Acetate
  • Response To Camp
  • Response To Cytokine
  • Response To Fungicide
  • Response To Herbicide
  • Response To Insecticide
  • Response To Ionizing Radiation
  • Response To Methylmercury
  • Response To Nutrient Levels
  • Response To Retinoic Acid
  • Response To Steroid Hormone

Drug Bank:

  • Aminophenazone
  • Abiraterone
  • Dexamethasone
  • Metoclopramide
  • Progesterone
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| 17-alpha-hydroxylase cytochrome P450| 17-alpha-hydroxyprogesterone aldolase| CPT7| cyp17| CYPXVII| cytochrome P450, 17| cytochrome P450, 17a1| cytochrome P450 17A1| cytochrome P450 17 alpha-hydroxylase| cytochrome P-450 17 alpha-hydroxylase/C17,20-lyase| cytochrome P450C17| Cytochrome P450-C17| cytochrome P450 family 17 polypeptide 1| cytochrome P450, family 17, subfamily A, polypeptide 1| cytochrome P450 steroid 17alpha-hydroxylase/17,20 lyase| cytochrome P450, subfamily 17| cytochrome P450 subfamily XVII| cytochrome P450, subfamily XVII| cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia| cytochrome P450 XVIIA1| P45017A1| P45017alpha| P450c17| P450-C17| P450 CYP17| S17AH| steroid 17-alpha hydroxylase| steroid 17-alpha-hydroxylase| Steroid 17-alpha-hydroxylase/17,20 lyase| steroid 17-alpha-monooxygenase| steroidogenic enzyme cytochrome P450 17a-hydroxylase/17,20 lyase| cyp17a1

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