Isolated 17,20-Lyase Deficiency due to the Cytochrome b5 Mutation W27X | Zendy

R. Kok | Zendy; M. A. Timmerman | Zendy; Katja P. Wolffenbuttel | Zendy; Stenvert L. S. Drop | Zendy; Frank H. de Jong | Zendy

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Isolated 17,20-Lyase Deficiency due to the Cytochrome b5 Mutation W27X

Author(s) -

R. Kok,

M. A. Timmerman,

Katja P. Wolffenbuttel,

Stenvert L. S. Drop,

Frank H. de Jong

Publication year - 2010

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.2008-1745

Subject(s) - cyp17a1 , missense mutation , cytochrome b5 , context (archaeology) , mutation , lyase , enzyme , chemistry , biology , gene , genetics , cytochrome , endocrinology , biochemistry , paleontology

Cytochrome P450c17 (P450c17) is a bifunctional enzyme necessary for the production of glucocorticoids (17-hydroxylase activity) and sex steroids (17,20-lyase activity). Isolated 17,20-lyase deficiency is a rare condition characterized by a deficient production of androgens resulting in 46,XY disorders of sex development (DSD) while the production of glucocorticoids is intact. Several missense mutations in the CYP17A1 gene are known to cause this condition. Cytochrome b(5) (CytB5) is an important factor in 17,20-lyase activity, probably by acting as an allosteric factor.

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