This view shows enzymes only for those organisms listed below, in the list of taxa known to possess the pathway. If an enzyme name is shown in bold, there is experimental evidence for this enzymatic activity.
Synonyms: testosterone biosynthesis
|Superclasses:||Biosynthesis → Hormones Biosynthesis|
Some taxa known to possess this pathway include : Homo sapiens
Expected Taxonomic Range:
This pathway describes the conversion of the inactive C21 steroid hormone precursor pregnenolone to the androgens: androstenedione, testosterone and 17β-hydroxy-5α-androstan-3-one. Androstenedione and testosterone are the inputs to estradiol biosynthesis I (via estrone). 17β-hydroxy-5α-androstan-3-one can not be converted to estrogens, so is the only committed androgen, and is also the most potent activator of the androgen nuclear hormone receptor.
Androgens are synthesized in testes, ovaries, placenta and other tissues and are required for normal sexual development in males and females. Mutations in all of the genes in this pathway result in varying degrees of sexual and genital malformation.
Superpathways: superpathway of steroid hormone biosynthesis
Geissler94: Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, Elliston KO, Wilson JD, Russell DW, Andersson S (1994). "Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3." Nat Genet 7(1);34-9. PMID: 8075637
Thomas89: Thomas JL, Myers RP, Strickler RC (1989). "Human placental 3 beta-hydroxy-5-ene-steroid dehydrogenase and steroid 5----4-ene-isomerase: purification from mitochondria and kinetic profiles, biophysical characterization of the purified mitochondrial and microsomal enzymes." J Steroid Biochem 33(2);209-17. PMID: 2770297
Andersson90: Andersson S, Russell DW (1990). "Structural and biochemical properties of cloned and expressed human and rat steroid 5 alpha-reductases." Proc Natl Acad Sci U S A 87(10);3640-4. PMID: 2339109
Auchus03: Auchus RJ, Sampath Kumar A, Andrew Boswell C, Gupta MK, Bruce K, Rath NP, Covey DF (2003). "The enantiomer of progesterone (ent-progesterone) is a competitive inhibitor of human cytochromes P450c17 and P450c21." Arch Biochem Biophys 409(1);134-44. PMID: 12464252
Berstein02a: Berstein LM, Imyanitov EN, Gamajunova VB, Kovalevskij AJ, Kuligina ESh, Belogubova EV, Buslov KG, Karpova MB, Togo AV, Volkov ON, Kovalenko IG (2002). "CYP17 genetic polymorphism in endometrial cancer: are only steroids involved?." Cancer Lett 180(1);47-53. PMID: 11911969
Brock99: Brock BJ, Waterman MR (1999). "Biochemical differences between rat and human cytochrome P450c17 support the different steroidogenic needs of these two species." Biochemistry 38(5);1598-606. PMID: 9931027
Chung87: Chung BC, Picado-Leonard J, Haniu M, Bienkowski M, Hall PF, Shively JE, Miller WL (1987). "Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues." Proc Natl Acad Sci U S A 84(2);407-11. PMID: 3025870
Fan92: Fan YS, Sasi R, Lee C, Winter JS, Waterman MR, Lin CC (1992). "Localization of the human CYP17 gene (cytochrome P450(17 alpha)) to 10q24.3 by fluorescence in situ hybridization and simultaneous chromosome banding." Genomics 14(4);1110-1. PMID: 1478654
Gorai03: Gorai I, Tanaka K, Inada M, Morinaga H, Uchiyama Y, Kikuchi R, Chaki O, Hirahara F (2003). "Estrogen-metabolizing gene polymorphisms, but not estrogen receptor-alpha gene polymorphisms, are associated with the onset of menarche in healthy postmenopausal Japanese women." J Clin Endocrinol Metab 88(2);799-803. PMID: 12574216
Hiort02: Hiort O, Schutt SM, Bals-Pratsch M, Holterhus PM, Marschke C, Struve D (2002). "A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency." Int J Androl 25(1);55-8. PMID: 11869378
Ito02: Ito K, Suzuki T, Akahira J, Moriya T, Kaneko C, Utsunomiya H, Yaegashi N, Okamura K, Sasano H (2002). "Expression of androgen receptor and 5alpha-reductases in the human normal endometrium and its disorders." Int J Cancer 99(5);652-7. PMID: 12115497
Jenkins91: Jenkins EP, Hsieh CL, Milatovich A, Normington K, Berman DM, Francke U, Russell DW (1991). "Characterization and chromosomal mapping of a human steroid 5 alpha-reductase gene and pseudogene and mapping of the mouse homologue." Genomics 11(4);1102-12. PMID: 1686016
Kado02: Kado N, Kitawaki J, Obayashi H, Ishihara H, Koshiba H, Kusuki I, Tsukamoto K, Hasegawa G, Nakamura N, Yoshikawa T, Honjo H (2002). "Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women." Hum Reprod 17(4);897-902. PMID: 11925378
Kagimoto88: Kagimoto M, Winter JS, Kagimoto K, Simpson ER, Waterman MR (1988). "Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency." Mol Endocrinol 2(6);564-70. PMID: 2843762
Khanna95: Khanna M, Qin KN, Wang RW, Cheng KC (1995). "Substrate specificity, gene structure, and tissue-specific distribution of multiple human 3 alpha-hydroxysteroid dehydrogenases." J Biol Chem 270(34);20162-8. PMID: 7650035
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