Open AccessQuantitation of CYP24A1 Enzymatic Activity With a Simple Two-Hybrid System
Author(s) -
Amy Mugg,
Balázs Legeza,
Meng Kian Tee,
Izabella Damm,
Roger Long,
Walter L. Miller
Publication year - 2014
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.2014-3365
Subject(s) - cyp24a1 , mutant , microbiology and biotechnology , missense mutation , wild type , exon , mutation , complementary dna , transfection , biology , chemistry , biochemistry , gene , calcitriol receptor
Mutations of the CYP24A1 gene encoding the 24-hydroxylase (24OHase) that inactivates metabolites of vitamin D can cause hypercalcemia in infants and adults; in vitro assays of 24OHase activity have been difficult.
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