Functional and Structural Consequences of a Novel Point Mutation in theCYP21A2Gene Causing Congenital Adrenal Hyperplasia: Potential Relevance of Helix C for P450 Oxidoreductase-21-Hydroxylase Interaction | Zendy

Felix G. Riepe | Zendy; Olaf Hiort | Zendy; Joachim Grötzinger | Zendy; Wolfgang G. Sippell | Zendy; Nils Krone | Zendy; PaulMartin Holterhus | Zendy

Open Access

Functional and Structural Consequences of a Novel Point Mutation in theCYP21A2Gene Causing Congenital Adrenal Hyperplasia: Potential Relevance of Helix C for P450 Oxidoreductase-21-Hydroxylase Interaction

Author(s) -

Felix G. Riepe,

Olaf Hiort,

Joachim Grötzinger,

Wolfgang G. Sippell,

Nils Krone,

PaulMartin Holterhus

Publication year - 2008

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2007-2646

Subject(s) - congenital adrenal hyperplasia , heme , mutation , oxidoreductase , missense mutation , mutant , compound heterozygosity , 21 hydroxylase , biology , biochemistry , chemistry , enzyme , genetics , gene

Congenital adrenal hyperplasia is caused by insufficient adrenal steroid biosynthesis due to impaired steroidogenic enzymes. The majority of patients suffer from deficiency of 21-hydroxylase (CYP21) coded by the CYP21A2 gene.

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