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    Glossary CYP21A2 gene

    encodes an enzyme essential for hormone production in adrenal glands

    The CYP21A2 gene, also known as the 21-hydroxylase gene, provides instructions for making an enzyme called 21-hydroxylase. This enzyme is crucial for the production of certain hormones in the adrenal glands, including cortisol and aldosterone. Mutations in the CYP21A2 gene can lead to congenital adrenal hyperplasia (CAH), a group of genetic disorders affecting hormone production and leading to symptoms such as abnormal growth and development.

    Research 10 of 200

    1. Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker Australasian Journal of Dermatology · 2019 · 7 citations
    2. The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China Clinical Cosmetic and Investigational Dermatology · 2021 · 10 citations
    3. 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH Journal of the Endocrine Society · 2024
    4. 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH Journal of the Endocrine Society · 2024
    5. Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems Balkan Journal of Medical Genetics · 2015 · 1 citations
    6. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    7. CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS) Hormone and Metabolic Research · 2013 · 9 citations
    8. Genetics and Pathophysiology of Congenital Adrenal Hyperplasia Contemporary Endocrinology · 2017
    9. Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation Hormones · 2016
    10. First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy Clinical Biochemistry · 2007
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