Genes involved in androgen biosynthesis and the male phenotype.
A series of enzymatic steps in the testis lead to the conversion of cholesterol to the male sex steroid hormones, testosterone and 5 alpha-dihydrotestosterone. Mutations in any one of these steps are presumed to alter or block the development of the male phenotype. Most of the genes encoding the enzymes involved in this pathway have now been cloned, and mutations within the coding regions of these genes do, in fact, block development of the male phenotype.
Waterman
M R
MR
Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tenn. 37232-0146.
Keeney
D S
DS
D000446:Aldehyde-Lyases / Q000235:genetics / Q000378:metabolism; D000728:Androgens / Q000096:biosynthesis* / Q000235:genetics*; D002786:Cholesterol Side-Chain Cleavage Enzyme / Q000235:genetics / Q000378:metabolism; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D012733:Sex Differentiation / Q000235:genetics* / Q000502:physiology; D013254:Steroid 17-alpha-Hydroxylase
D000728:Androgens; D003577:Cytochrome P-450 Enzyme System; D013254:Steroid 17-alpha-Hydroxylase; D002786:Cholesterol Side-Chain Cleavage Enzyme; D000446:Aldehyde-Lyases