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Cytochrome P450, family 21, subfamily A, polypeptide 2

21-hydroxylase, Steroid 21-Hydroxylase
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 many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, CAN, SIMPLE, AGE, POLYMERASE
Papers on 21-hydroxylase
Single-Dose Study of a Corticotropin-Releasing Factor Receptor-1 Antagonist in Women with 21-Hydroxylase Deficiency.
Auchus et al., San Diego, United States. In J Clin Endocrinol Metab, Feb 2016
CONTEXT: Treatment of 21-hydroxylase deficiency (21OHD) is difficult to optimize.
High-Dose Hook Effect in 17-Hydroxyprogesterone Assay in a Patient with 21-Hydroxylase Deficiency.
Türkkahraman et al., Antalya, Turkey. In J Clin Res Pediatr Endocrinol, Jan 2016
21-hydroxylase deficiency (21-OHD) is the most commonly encountered form.
Interleukin 6 increases the in vitro expression of key proteins associated with steroidogenesis in the bovine adrenal zona fasciculata.
Judd et al., Provo, United States. In Domest Anim Endocrinol, Nov 2015
Exposure (1 h) to IL-6 increased in a concentration-dependent manner (10-pg IL-6/mL, P < 0.05 vs control; 100-pg IL-6/mL, P < 0.01 vs control) the relative expression of the mRNAs and proteins for steroidogenic acute regulatory protein (StAR), cholesterol side-chain cleavage enzyme (P450scc), 3β hydroxysteroid dehydrogenase type 2 (3β HSD), 17α-hydroxylase/17,20-lyase/17,20-desmolase (P450 17OH), steroid 21-hydroxylase (P450 21OH), steroid 11-β-hydroxylase type 1 (P450 11βOH), and steroidogenic factor 1 (SF-1), a nuclear factor that increases StAR and steroidogenic enzymes (SEs) expression.
Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision).
Tajima et al., Tokyo, Japan. In Clin Pediatr Endocrinol, Jul 2015
Purpose of developing the guidelines: The first guidelines for diagnosis and treatment of 21-hydroxylase deficiency (21-OHD) were published as a diagnostic handbook in Japan in 1989, with a focus on patients with severe disease.
Management considerations for the adult with congenital adrenal hyperplasia.
Auchus, Ann Arbor, United States. In Mol Cell Endocrinol, Jul 2015
The congenital adrenal hyperplasias (CAH) are a group of genetic defects in cortisol biosynthesis, most commonly steroid 21-hydroxylase deficiency (21OHD).
Adrenal steroidogenesis and congenital adrenal hyperplasia.
Auchus et al., Ann Arbor, United States. In Endocrinol Metab Clin North Am, Jun 2015
21-Hydroxylase (21OHD) deficiency accounts for more than 90% of CAH cases and, when milder or nonclassic forms are included, 21OHD is one of the most common genetic diseases.
A Greek girl with 11β-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene.
Papadimitriou et al., Athens, Greece. In Endocrinol Diabetes Metab Case Rep, 2014
In infancy and childhood adrenal androgen overproduction results in peripheral precocious puberty in boys and various degrees of virilization in girls.Accumulation of 11-deoxycorticosterone and its metabolites causes hypertension in about two thirds of patients.Diagnosis lies upon elevated 11-deoxycortisol and DOC plus upstream precursors, such as 17α-hydroxyprogesterone and Δ4-androstenedione.The established treatment of steroid 11β-OHD is similar to that of steroid 21-hydroxylase deficiency and consists of glucocorticoid administration in order to reduce ACTH-driven DOC overproduction resulting in hypertension remission and improvement of the virilization symptoms.
Congenital Adrenal Hyperplasia.
Speiser, North Bay Shore, United States. In F1000res, 2014
Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group.
Approach to the patient: the adult with congenital adrenal hyperplasia.
Arlt et al., Ann Arbor, United States. In J Clin Endocrinol Metab, 2013
The most common form of congenital adrenal hyperplasia is steroid 21-hydroxylase deficiency (21OHD).
Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms.
Gribaa et al., Sousse, Tunisia. In Gene, 2012
Three novel single nucleotide polymorphism (SNP) loci were identified in the CYP21A2 gene which seems to be specific for the Tunisian population
Unexpected contribution of cytochrome P450 enzymes CYP11B2 and CYP21, as well as CYP3A4 in xenobiotic androgen elimination - insights from metandienone metabolism.
Schänzer et al., Berlin, Germany. In Toxicol Lett, 2012
Report role of CYP21 in metandienone metabolism.
Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone.
Cinek et al., Praha, Czech Republic. In Clin Endocrinol (oxf), 2012
Among the 701 successfully sequenced samples from subjects with transiently elevated 17-OHP, 670 (95%) had no point mutations or novel variants in the CYP21A2 gene
[Characterization of new splicing mutation in steroid 21-hydroxylase gene].
Tul'pakov et al., In Bioorg Khim, 2011
Novel mutation in CYP21A2 gene causing the steroid 21-hydroxylase deficiency - C to G substitution in 7-position ofintron 2 acceptor splice site (c.290-7C>G) was identified.
Characteristics and prevalence of non-classical congenital adrenal hyperplasia with a V2811 mutation in patients with premature pubarche.
Ocal et al., Ankara, Turkey. In J Pediatr Endocrinol Metab, 2010
Non-classical congenital adrenal hyperplasia was defined in nine (5.7%) patients, all of whom had the V281L mutation.
Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency.
Fujieda et al., Sapporo, Japan. In Clin Pediatr Endocrinol, 2007
Steroid 21-hydroxylase deficiency (21-OHD) accounts for 90-95% of congenital adrenal hyperplasia (CAH) cases.
Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction.
Zanchetta et al., Padova, Italy. In Endocr Rev, 2002
At the onset, all patients with autoimmune AD (100%) had detectable adrenal cortex and/or steroid 21-hydroxylase autoantibodies.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Speiser et al., Dallas, United States. In Endocr Rev, 2000
The disease is caused by mutations in the CYP21 gene encoding the steroid 21-hydroxylase enzyme.
Genetics of adrenal steroid 21-hydroxylase deficiency.
Speiser et al., In Endocr Rev, 1986
A deletion of the active 21-hydroxylase gene has been detected in some classical patients; further investigations are in progress to elucidate the molecular genetics of this disease.
Pharmacologic suppression of the fetal adrenal gland in utero. Attempted prevention of abnormal external genital masculinization in suspected congenital adrenal hyperplasia.
Overpeck et al., In Jama, 1985
21-Hydroxylase deficiency results in congenital adrenal hyperplasia and leads to masculinization of the external genitalia of affected females.
Two steroid 21-hydroxylase genes are located in the murine S region.
Seidman et al., In Nature, 1984
Recently, this disorder was demonstrated to result from a defective structural gene for the 21-OH enzyme, also termed cytochrome P-450C21.
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