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Article

Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.

Proceedings of the National Academy of Sciences of the United States of America - 1 Jun 1992

Pascoe L, Curnow K M, Slutsker L, Rösler A, White P C

Abstract excerpt

Corticosterone methyloxidase II (CMO-II) deficiency is an autosomal recessive disorder of aldosterone biosynthesis, characterized by an elevated ratio of 18-hydroxycorticosterone to aldosterone in serum. It is genetically linked to the CYP11B1 and CYP11B2 genes that, respectively, encode two cytochrome P450 isozymes, P450XIB1 and P450XIB2. Whereas P450XIB1 only catalyzes hydroxylation at position 11 beta of...

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Identifiers

PMID: 1594605
DOI: 10.1073/pnas.89.11.4996
PMCID: PMC49215

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