Michael Waterman
Faculty Member
Last active: 2/12/2015

Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450.

Yanase T, Kagimoto M, Matsui N, Simpson ER, Waterman MR
Mol Cell Endocrinol. 1988 59 (3): 249-53

PMID: 3263289

Steroid 17 alpha-hydroxylase (cytochrome P-450(17)alpha) mediates both 17 alpha-hydroxylase and 17,20-lyase activities. A relatively rare disease, 17 alpha-hydroxylase deficiency is characterized by defects in either or both of these activities. The molecular basis for variability of the defect is not well understood. We have determined the exonic sequence of the mutant P-450(17)alpha gene from one Japanese patient with combined 17 alpha-hydroxylase/17,20-lyase deficiencies. A stop codon (TGA) due to a single point mutation was found at the position of amino acid 17 in exon 1 of the P-450(17)alpha gene. The presence of a stop codon in the N-terminal region of this gene leads to the absence of a functional P-450(17)alpha protein in adrenal cortex and ovary, and consequently hypertension, primary amenorrhea and osteoporosis in this patient.

MeSH Terms (20)

Adrenal Cortex Adrenal Hyperplasia, Congenital Adult Aldehyde-Lyases Amenorrhea Amino Acid Sequence Base Sequence Blotting, Southern Codon Cytochrome P-450 Enzyme System Exons Female Humans Hypertension Molecular Sequence Data Mutation Osteoporosis Ovary RNA, Messenger Steroid Hydroxylases

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