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Article

Genetic recombination as a cause of inherited disorders of aldosterone and cortisol biosynthesis and a contributor to genetic variation in blood pressure.

Steroids - 1 Jan 1995

Pascoe L, Curnow K M

Abstract excerpt

CYP11B1 (11 beta-hydroxylase) and CYP11B2 (aldosterone synthase) are steroidogenic enzymes which mediate the final step (11 beta-hydroxylation) in cortisol synthesis and the final three steps (11 beta-hydroxylation, 18-hydroxylation, and 18-oxidation) in aldosterone synthesis, respectively. The enzymes share 93% identity in amino acid sequence and are encoded by two structurally similar genes which are located in...

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Source

Identifiers

PMID: 7792811
DOI: 10.1016/0039-128x(94)00003-u

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Genetic recombination as a cause of inherited disorders of aldosterone and cortisol biosynthesis and a contributor to genetic variation in blood pressure.PMID 7792811Read ↗

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Deletion Hybrid Genes, due to Unequal Crossing Over betweenCYP11B1(11β-Hydroxylase) andCYP11B2(Aldosterone Synthase) Cause Steroid 11β-Hydroxylase Deficiency and Congenital Adrenal Hyperplasia1Semantic proximity Read ↗

Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2.Semantic proximity Read ↗

Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia.Semantic proximity Read ↗

Congenital adrenal hyperplasia: 11beta-hydroxylase deficiency.Semantic proximity Read ↗

The impact of polymorphisms in the gene encoding aldosterone synthase (CYP11B2) on steroid synthesis and blood pressure regulation.Semantic proximity Read ↗

Rare types of congenital adrenal hyperplasia: report of five children with 11β-hydroxylase deficiency including pathogenic and novel CYP11B1 variants.Semantic proximity Read ↗

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