Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin | Zendy

Adam Zalewski | Zendy; S. Nina | Zendy; Balázs Legeza | Zendy; Nora E. Renthal | Zendy; Christa E. Flück | Zendy; Amit V. Pandey | Zendy

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Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin

Author(s) -

Adam Zalewski,

S. Nina,

Balázs Legeza,

Nora E. Renthal,

Christa E. Flück,

Amit V. Pandey

Publication year - 2016

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.2016-2124

Subject(s) - adrenodoxin , endocrinology , phex , rickets , medicine , vitamin d and neurology , calcitriol , chemistry , wild type , cytochrome p450 , vitamin d deficiency , biology , biochemistry , gene , metabolism , mutant

CYP27B1 converts 25-hydroxyvitamin D3 to active 1,25-dihydroxyvitamin D3, playing a vital role in calcium homeostasis and bone growth. Vitamin D-dependent rickets type 1 (VDDR-1) is a rare autosomal recessive disorder caused by mutations in CYP27B1.

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