Steroid 21-hydroxylase
Definition:
References:
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[1]. Yulia Grischuk, et al. Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis. J Clin Endocrinol Metab. 2006 Dec;91(12):4976-80. [Content Brief]
[2]. Paola Concolino, et al. p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients. Metabolism. 2012 Apr;61(4):519-24. [Content Brief]
[3]. Débora de Paula Michelatto, et al. Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects. Int J Endocrinol. 2016;2016:4209670. [Content Brief]
[4]. T Tajima, et al. Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochromeP450 21-hydroxylase into the adrenal gland of21-hydroxylase-deficient mice. Gene Ther. 1999 Nov;6(11):1898-903. [Content Brief]
[5]. Pradeep S Pallan, et al. Human Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase: STRUCTURE OF THE ENZYME·PROGESTERONE SUBSTRATE COMPLEX AND RATE-LIMITING C-H BOND CLEAVAGE. J Biol Chem. 2015 May 22;290(21):13128-43. [Content Brief]
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