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GlossaryCYP21A2 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.

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research Nonclassical Congenital Adrenal Hyperplasia and Pregnancy

1 citations , January 2015 in “Case reports in endocrinology”

Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.

research First Case of V281+I172N/V281L CYP21A2 Genotype Associated with Congenital Adrenal Hyperplasia: A Case Report from Southern Italy

October 2007 in “Clinical Biochemistry”

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 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

research Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 Gene p.V281L Mutation from Congenital Adrenal Hyperplasia Linked to HLA Class I Haplotype HLA-A33:01; B14:02; C*08:02 as a Genetic Marker

7 citations , January 2019 in “Australasian Journal of Dermatology”

A genetic marker linked to a type of hair loss was found in most patients studied.

research A Case of 21-Hydroxylase Deficiency in Turner's Syndrome and Literature Review

1 citations , September 2017 in “Zhonghua neifenmi daixie zazhi”

Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.

research Genetic Screening of Non-Classic CAH Females with Hyperandrogenemia Identifies a Novel CYP11B1 Gene Mutation

April 2016 in “Hormones”

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

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