The FEBS journal
Distinct and potent vitamin D hydroxylation activity acquired by the CYP3A4 I301T single amino acid substitution causes type 3 rickets.
Naoto Nakaya, Ryota Sakamoto, Hiroki Mano, Bunzo Mikami, Hiromasa Imaishi, Kazuo Nagasawa, Toshiyuki Sakaki, Kaori Yasuda
Published: 202510.1111/febs.70277
Abstract
The cytochrome P450 3A4 (CYP3A4) variant I301T has been associated with type 3 rickets, which is characterized by reduced serum calcium and significantly decreased levels of 25-hydroxyvitamin D3 [25(OH)D3] and 1α,25-dihydroxyvitamin D3 [1α,25(OH)2D3]…
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