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21-hydroxylasis

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Steroidi 21-Hydroxylasis vel 21α-hydroxylasis (numerus EC 1.14.14.16) est simul enzymum hydroxylasis et cytochromate P450, quod steroida positione C21 gregem hydroxyli (-OH) addit[1], quod biosynthesis et aldosteroni et cortisoli perncesse est, quia intra reticuli endoplasmatic membranas corticis glandulae suprarenalis convertit

In hominibus enzymi genum, CYP21A2, chromosomate 6 locatum est. Hodie plus quam 1 300 geni mutationes geneticae notae sunt[2].

Hyperplasia glandularum suprarenalium congenitalis, grex morborum geneticorum cum malo conversionis cholesteroli in cortisolum, in plus qua, 90% deficientia enzymi 21-hydroxlasis causa observatur[3].

  1. Ryan K. J., Engel L. L. (Mar 1957). "Hydroxylation of steroids at carbon 21". The journal of biological chemistry 225 (1): 103-14 
  2. Simonetti L., Bruque C. D., et al. (Ian 2018). "CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants". Human mutation 39 (1): 5-22 
  3. Parsa A. A., New M. I. (Ian 2017). "Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia". The journal of steroid biochemistry and molecular biology 165 (Pt A): 2-11 

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