Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency.
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference37 articles.
1. C21 steroid side chain cleavage enzyme from porcine adrenal microsomes. Purification and characterization of the 17 alpha-hydroxylase/C17,20-lyase cytochrome P-450.
2. Expression of Bovine 17α-Hydroxylase Cytochrome P-450 cDNA in Nonsteroidogenic (COS 1) Cells
3. ASSIGNMENT OF THE GENE FOR ADRENAL P450cl7 (STEROID 17α-HYDR0XYLASE⁄17,20 LYASE) TO HUMAN CHROMOSOME 10.
4. Regional Mapping of Genes Encoding Human Steroidogenic Enzymes: P450scc to 15q23–q24, Adrenodoxin to 11q22; Adrenodoxin Reductase to 17q24–q25; and P450c17 to 10q24–q25
5. Cloning and Sequence of the Human Gene for P450cl7 (Steroid 17α-Hydroxylase/17,20 Lyase): Similarity with the Gene for P450c21
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1. An elderly patient with 17α-hydroxylase deficiency misdiagnosed as primary aldosteronism: a case report;BMC Endocrine Disorders;2022-12-02
2. Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation;Annals of Pediatric Endocrinology & Metabolism;2021-03-31
3. Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency;Journal of Pediatric Endocrinology and Metabolism;2020-07-11
4. Genetic Basis of Endocrine Regulation of Spermatogenesis;Genetics of Male Infertility;2020
5. HomozygousCYP17A1mutation (H373L) identified in a 46,XX female with combined 17α-hydroxylase/17,20-lyase deficiency;Gynecological Endocrinology;2012-03-28
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