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cytochrome P450, family 21, subfamily A, polypeptide 2
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for...
Normal tissues
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|
||
|---|---|---|---|
| Adrenal cortex |
100
|
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| Adrenal gland |
98
|
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| Salivary gland |
62
|
||
| Caudate nucleus |
61
|
||
| Thyroid gland |
58
|
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| Superior vena cava |
55
|
Compounds
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|
||
|---|---|---|---|
| Artemisinine |
100
|
||
| Choline Phosphate |
97
|
||
| Pipenzolate Bromide |
95
|
||
| Carbetapentane |
90
|
||
| Tarenflurbil |
90
|
||
| Trolox |
90
|
 Individual Studies |
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Homo sapiens
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Mutations/Phenotypic
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Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.
Authors: Caroline Bleicken, Lourdes Loidi, Vivek Dhir, Silvia Parajes, Celsa Quinteiro, Fernando Dominguez, Joachim Grötzinger, Wolfgang G Sippell, Felix G Riepe, Wiebke Arlt,…
Human mutation 2009 Feb -
A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency.
Authors: Silvia Parajes, Celsa Quinterio, Fernando Domínguez, Lourdes Loidi
Clinical chemistry 2007 Sep
Thought leaders and organizations working on research involving CYP21A2.
- Office of Rare Diseases (ORD)
- Maastricht University Medical Center
- Radboud University
- Sheffield Teaching Hospitals NHS Foundation Trust
- Eunice Kennedy Shriver National Institute of Child Health and Human De…
- Hôpital Debrousse
- Catholic University
- Mackay Memorial Hospital
- Mount Sinai School of Medicine
- Faculdade de Medicina da Universidade de São Paulo
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Role of the Protein Osteoprotegerin in the Bone Health of Women With Congenital Adrenal Hyperplasia
conditions: Adrenal Hyperplasia, Congenital
interventions: none
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Examining Genetic Differences Among People With 21-Hydroxylase Deficiency
conditions: 21-Hydroxylase Deficiency
interventions: Hydrocortisone withdrawal
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