Open AccessCYP2R1Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency
Author(s) -
Tom D. Thacher,
Philip R. Fischer,
Ravinder J. Singh,
Jeffrey D. Roizen,
Michael A. Levine
Publication year - 2015
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.2015-1746
Subject(s) - vitamin d and neurology , endocrinology , medicine , rickets , vitamin d deficiency , biology , vitamin , missense mutation , genetics , mutation , gene
Production of the active vitamin D hormone 1,25-dihydroxyvitamin D requires hepatic 25-hydroxylation of vitamin D. The CYP2R1 gene encodes the principal vitamin D 25-hydroxylase in humans.
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