Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.V320A
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CYP11B1

NM_000497.4:p.V320A

Associated Papers

Kinetics of Intermediate Release Enhances P450 11B2-Catalyzed Aldosterone Synthesis.

Valentín-Goyco J et al.

Biochemistry, 2024

Chimeric Genes Causing 11β-Hydroxylase Deficiency: Implications in Clinical and Molecular Diagnosis.

Concolino P

Molecular Diagnosis & Therapy, 2024

Unequal crossing over between CYP11B2 and CYP11B1 causes 11 β -hydroxylase deficiency in a consanguineous family.

Xiong Y et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2023

Spatially restricted substrate-binding site of cortisol-synthesizing CYP11B1 limits multiple hydroxylations and hinders aldosterone synthesis.

Mukai K et al.

Current Research in Structural Biology, 2021

Molecular Recognition in Mitochondrial Cytochromes P450 That Catalyze the Terminal Steps of Corticosteroid Biosynthesis.

Peng HM et al.

Biochemistry, 2017

Different effects of progesterone and estradiol on chimeric and wild type aldosterone synthase in vitro.

Vecchiola A et al.

Reproductive Biology and Endocrinology : Rb&e, 2013

Structural insights into aldosterone synthase substrate specificity and targeted inhibition.

Strushkevich N et al.

Molecular Endocrinology (baltimore, Md.), 2013

Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.

Zhao LQ et al.

World Journal of Pediatrics : Wjp, 2008

Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele.

Kuribayashi I et al.

Hormone Research, 2005

[11beta-hydroxylase deficiency].

Mello MP et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2004

Neonatal salt-wasting and 11 beta-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 beta-hydroxylase).

Ezquieta B et al.

Clinical Genetics, 2004

Mutation analysis of CYP11B1 and CYP11B2 in patients with increased 18-hydroxycortisol production.

Nicod J et al.

Molecular and Cellular Endocrinology, 2004

Mutations in CYP11B1 gene converting 11beta-hydroxylase into an aldosterone-producing enzyme are not present in aldosterone-producing adenomas.

Pilon C et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

Recombinant CYP11B genes encode enzymes that can catalyze conversion of 11-deoxycortisol to cortisol, 18-hydroxycortisol, and 18-oxocortisol.

Mulatero P et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

Conferring aldosterone synthesis to human CYP11B1 by replacing key amino acid residues with CYP11B2-specific ones.

Böttner B et al.

European Journal of Biochemistry, 1998

Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997.

Peter M et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

The amino acid substitutions Ser288Gly and Val320Ala convert the cortisol producing enzyme, CYP11B1, into an aldosterone producing enzyme.

Curnow KM et al.

Nature Structural Biology, 1997

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."