The impact of the clinical CYP11B2 mutation V386A strongly depends on the enzyme's genetic background.

Neunzig, Jens; Khatri, Yogan; Bernhardt, Rita

Neunzig, Jens; Khatri, Yogan; Bernhardt, Rita.

Affiliation

Neunzig J; Institute of Biochemistry, Saarland University, Saarbrücken 66123, Germany.
Khatri Y; Institute of Biochemistry, Saarland University, Saarbrücken 66123, Germany.
Bernhardt R; Institute of Biochemistry, Saarland University, Saarbrücken 66123, Germany.

Endocr J ; 64(4): 457-461, 2017 Apr 29.

Article in En | MEDLINE | ID: mdl-28190867

Subject(s)

Cytochrome P-450 CYP11B2/genetics; Cytochrome P-450 CYP11B2/metabolism; Endocrine System Diseases/genetics; Mutation, Missense/physiology; Alanine/genetics; Aldosterone/biosynthesis; Amino Acid Sequence; Amino Acid Substitution; Corticosterone/chemistry; Corticosterone/metabolism; Cytochrome P-450 CYP11B2/chemistry; Endocrine System Diseases/enzymology; Escherichia coli; Genetic Background; Humans; In Vitro Techniques; Molecular Docking Simulation; Structure-Activity Relationship; Valine/genetics

Key words

Aldosterone synthesis; CYP11B2 mutations; Genetic background; Polymorphisms; Reconstituted in vitro system

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cytochrome P-450 CYP11B2 / Mutation, Missense / Endocrine System Diseases Limits: Humans Language: En Journal: Endocr J Journal subject: ENDOCRINOLOGIA Year: 2017 Document type: Article Affiliation country: Germany Country of publication: Japan

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