Recombinant Human Steroid 21-hydroxylase (CYP21A2)

1. The purpose of this study was to evaluate C4A and C4B in patients with congenital adrenal hyperplasia in relation to CYP21A2 genotype and psychiatric and autoimmune comorbidity. We determined the copy numbers of C4A and C4B in 145 patients with CAH .No association was found between C4 copy number and autoimmune disease PMID: 30465166
2. The distribution of CYP21A2 gene mutations among Ukrainian patients with congenital adrenal hyperplasia of different clinical phenotypes are presented. PMID: 30480408
3. 233 pathogenic variants of CYP21A2 gene found in congenital adrenal hyperplasia due to 21-hydroxylase deficiency have been catalogued. (Review) PMID: 29450859
4. Herein, we have functionally characterized the CYP21A2 missense mutations viz., p. F306V and p. H365N. Notably, both the mutations were harbored by the patients exhibiting the non classical phenotype. PMID: 29684512
5. 21-Hydroxylase is encoded by the CYP21A2 gene, with a homologous pseudogene. All patients with SW 21-hydroxylase deficiency (21-OHD) had elevated plasma renin activity. The most frequent SW 21-OHD mutations were c.293-13C>G and gene deletion, whereas Ile173Asn and c.293-13C>G were the most frequently detected in SV 21-OHD. PMID: 28392195
6. Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21-hydroxylase deficiency in a Chinese pedigree has been reported. PMID: 29328376
7. Bioinformatics analysis of protein structure and known mutations in CYP21A2 gene in congenital adrenal hyperplasia demonstrate that most of the SNPs shows no biological implications. However, the study proposes a putative pathogenic effect of five novel mutations, p.L107Q, p.L122R, p.R132H, p.P335L and p.H466fs, found in 21-hydroxylase deficient patients. PMID: 27966633
8. Data indicate seven pathogenic mutations of the CYP21A2 gene among the 8 patients, and 21-hydroxylase deficiency (21-OHD) can cause testicular hypoplasia and spermatogenic failure. PMID: 29419855
9. Mutation in the CYP21A2 gene is associated with nonclassical 21-hydroxylase deficiency and final height. PMID: 28672743
10. CAH can be diagnosed in utero through direct molecular analysis of CYP21A2 gene, using DNA extracted from foetal tissues or cells obtained from chorionic villus sampling or amniocentesis.Our preliminary findings show that prenatal diagnosis (PND)by direct mutation analysis along with MLPA is a feasible strategy that can be offered to families at risk PMID: 28639595
11. Association of HLA alleles and haplotypes with CYP21A2 gene p. V282L mutation in the Croatian population has been reported. PMID: 27709802
12. Study describes a biallelic TNXB variants in patients with congenital adrenal hyperplasia due to CYP21A2 deletions resulting in a classical Ehlers-Danlos syndrome phenotype with skin hyperextensibility, widened atrophic scars and joint hypermobility. PMID: 27297501
13. Variations in CYP21A2 gene is associated with Congenital Adrenal Hyperplasia. PMID: 28844486
14. CYP21A2 carriers had a lower risk of developing mood and stress-related disorders after the diagnosis of the child PMID: 27654981
15. A unique haplotype of RCCX copy number variation harboring a CYP21A2 identified in congenital adrenal hyperplasia patients. PMID: 28401898
16. The aim of this paper is to provide a comprehensive literary review regarding all intronic CYP21A2 pathological variants reported to date--{REVIEW} PMID: 28521877
17. Nine known mutations have been found in Chinese patients with 21-hydroxylase deficiency. PMID: 28415939
18. There seems to be a specific spectrum of CYP21A2 gene mutations in Fujian area. PMID: 27984606
19. in-depth investigation of congenital adrenal hyperplasia-associated P450 21A2 variants reveals critical insight into the effects of disease-causing mutations on this important enzyme. PMID: 28539365
20. review of the role of steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia [review] PMID: 27380651
21. CYP21A2 expression is localized in the developing distal epithelium of the human perinatal lung and is compatible with in situ production and intracrine actions of active glucocorticoids. PMID: 27004467
22. CYP21A2 genetic analysis of patients and family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia PMID: 27041116
23. spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort PMID: 27890570
24. CYP21A2 mutation spectrum of Chinese patients with 21-hydroxylase deficiency-induced congenital adrenal hyperplasia PMID: 26804566
25. 27 CYP21A2 mutant alleles is identified in 14 congenital adrenal hyperplasia-suspected patients. The c.293-13A>G (or c.293-13C>G) was the most common mutation, and p.Ile173Asn was the second, identified in 25% and 17.9% of alleles. PMID: 26206692
26. Data suggest that the definitive diagnosis can be established based on steroid profile (USP) and/or 21-hydroxylase (CYP21A2) genetic testing. PMID: 26331608
27. We found p.Gln318X mutation in 4 patients and c.290 -13 C>G (IVS2-13C>G) in another 4. Four subjects had, what seems to be, a common deletion in our cohort detected by MLPA (a technique designed to detect alterations (deletion/duplication). PMID: 25630015
28. In current study, molecular testing of 21 patients with classic form of Congenital adrenal hyperplasia identified eight mutations of the CYP21A2 gene. PMID: 26278268
29. The results suggest that the A>G variation in the Z promoter is involved in misregulating the transcriptional activity of the CYP21A2 gene. PMID: 26184415
30. Data suggest 3 siblings with nonclassical, congenital adrenal hyperplasia exhibit rare mutation in CYP21A2; siblings are heterozygotes for maternal 30 kb deletion and exhibit a second, rare point mutation (c.1097G>A, p.R366H) in exon 8. [CASE REPORT] PMID: 26291314
31. Novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations in Serbian patients with congenital adrenal hyperplasia. PMID: 26233337
32. The main conclusion from a mutation-structure-activity study is that the severity of the congenital adrenal hyperplasia clinical manifestations can be directly correlated with the degree of mutation-induced damage in terms of protein fold stability and active site changes in the structural model of Cytochrome P450 21A2. PMID: 26172259
33. The genetic analysis of the splice site mutation c.293-13A>G and c.518T>A variant can be used as good biomarkers for early detection of cases and carriers in 21-OHD. PMID: 25501839
34. Increased allelic frequency for the CYP21A2 p.Asn493Ser polymorphism is observed in girls with premature adrenarche. PMID: 25481255
35. Prevalence of P30L, P453S, and V281L mutations of CYP21A2 gene is increased in patients with adrenocortical tumors. PMID: 25970792
36. Mutations of CYP21A2 gene is associated with 21-hydroxylase deficiency. PMID: 26903061
37. This study aimed to design a reliable and rational approach for identifying mutations in the CYP21A2 gene and to characterize the molecular basis of 21-Hydroxylase deficiency in 30 Chinese patients. PMID: 24503005
38. mutations of the CYP21A2 gene may have a role in nonclassical congenital adrenal hyperplasia PMID: 25041270
39. The result confirm specific steroid 21-hydroxylase-directed reactivity of the peripheral Addison's disease lymphocytes, which display increased synthesis of interleukin-2 and soluble IL2Ra. PMID: 25347332
40. Boy exhibits compound heterozygous mutations (IVS2-13 A/C>G, and p.E431K) in CYP21A2 resulting in congenital adrenal hyperplasia; the mother is heterozygous for IVS2-13 A/C>G mutation; the father is heterozygous for E431K mutation. [CASE REPORT] PMID: 25319875
41. analysis of CYP21A2 mutations in Turkish congenital adrenal hyperplasia patients PMID: 25227725
42. The common CYP21A2 variants exert the same effect on hormone levels in the healthy and disease-affected populations. PMID: 25210767
43. The structure of the human P450 21A2-substrate complex provides direct insight into mechanistic effects of genetic variants. PMID: 25855791
44. A meta-analysis of genome-wide association studies of blood pressure and hypertension in Chinese identified three new loci (CACNA1D, CYP21A2, and MED13L) and a newly discovered variant near SLC4A7. PMID: 25249183
45. Genetic variants of CYP21A2 associated to autoimmune Addison's disease(AAD) are in linkage disequilibrium with the main AAD risk locus HLA-DRB1, and CYP21A2 does not constitute an independent susceptibility locus. PMID: 25249698
46. Direct sequencing of CYP21A2 gene showed genotypes correlated to pathological phenotypes in congenital adrenal hyperplasia patients. PMID: 25025300
47. steroid 21-hydroxylase, CYP21A2, converted 16,17-dehydroprogesterone to the 21-hydroxylated product and only a trace of epoxide PMID: 25386927
48. Molecular modeling suggests a major impact on 21-hydroxylase activity, and functional analysis after expression in COS-7 cells confirms reduced enzymatic activity of the mutant enzymes. PMID: 24799024
49. Mutations in CYP21A2 gene is associated with Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. PMID: 24667412
50. Mutations of CYP21A2 including IVS2-13A/C>G, Arg356Trp and Arg149Pro were associated with congenital adrenal hyperplasia due to 21 hydroxylase deficiency. PMID: 25119915

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HGNC: 2600

OMIM: 201910

KEGG: hsa:1589

STRING: 9606.ENSP00000408860

UniGene: Hs.654479