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
51. CYP21A2 analysis permitted to confirm the diagnosis of 21-hydroxylase in 68% of our children. To improve this percentage we suggest to perform the CYP21A2 analysis only when 17-OHP after ACTH test is greater than 100 nmol/l. PMID: 24081139
52. CYP21A2 gene mutations is associated with 21-hydroxylase deficiency. PMID: 24928004
53. maintenance of the CYP21 enzyme function is critical, and could lead to negative selection, whereas the presumed gene regulation altering steroid hormone levels via intron 2 might help fast adaptation PMID: 24312389
54. The CYP21A2 genotypes influence the severity of genital virilization in 21OHD females. PMID: 22978668
55. The aim of the study was to define the contribution of CYP21A2 heterozygous mutations to the pathogenesis of polycystic ovary syndrome. PMID: 23386413
56. TaqI fragment may include multiple variants of chimeric CYP21A1P/CYP21A2 genes, a haplotype with dual mutations of IVS2-12A/C>G and 707-714del, and a functional CYP21A2 gene caused by small-scale conversions of the 5' end of the CYP21A1P sequence. PMID: 23313747
57. The study has found various mutations including deletions in CYP21A2 gene in Malaysian patients with 21-hydroxylase deficiency using the MLPA technique. PMID: 23027774
58. Although the frequency of the CYP21A2*15 was small, we found no primary contribution of this mutation to the protection against chronic Chagas disease. PMID: 23376085
59. CYP21A2 genotypes do not predict the severity of hyperandrogenic manifestations in the nonclassical form of congenital adrenal hyperplasia. PMID: 23322511
60. Ashkenazi Jews in Israel have a prevalence of 1:400 cases of Nonclassical 21-hydroxylase deficiency due to a mutation of the CYP21A2 gene. Early treatment with hydrocortisone, in childhood, was found to improve adult height, in a retrospective study. PMID: 23298233
61. CYP21 cannot use Delta(5)-Delta(7) steroids as a substrate. PMID: 23586722
62. Gene for adrenal 21-hydroxylase, CYP21, located on chromosome 6p in the area of human leukocyte antigen (HLA) genes. Specific mutations may be associated with certain degree of enzymatic compromise and clinical form of 21-hydroxylase deficiency (21-OHD). PMID: 23692712
63. Females with premature adrenarche and hyperandrogenemia are likely to bear heterozygous CYP21A2 mutations, therefore systematic evaluation of 17-OHP values in combination with the molecular testing of CYP21A2 gene is beneficial, b. carriers of the mild p.V281L, are at higher risk of androgen excess compared to carriers of other types of mutations. PMID: 23045419
64. A genetic study on an Italian congenital adrenal hyperplasia family indicates that a CYP21A2 p.E238 deletion is a result of multiple microconversion between the CYP21A2 gene and its CYP21A1P pseudogene. PMID: 23370425
65. Data suggest that adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 mutations) exhibit decreased bone mineral density and bone formation markers compared with age-/sex-matched controls. PMID: 23211577
66. Mutations that affect membrane anchoring, substrate binding, or impair stability of CYP21A2 cause loss of function and salt-wasting disease; those affecting transmembrane or hydrophobic regions cause reduction in enzyme activity and virilizing disease. PMID: 23359706
67. High basal levels of adrenal androgens may support the clinical suspicion of non-classical 21-hydroxylase deficiency but normal lvels do not rule it out. PMID: 23329749
68. genetic association studies in a patient population in Portugal: mutations were identified CYP21A2 in 5 patients with congenital adrenal hyperplasia PMID: 23073904
69. Vitamin D-mediated regulation of CYP21A2 transcription. PMID: 22561756
70. discussion of mutations in CYP21A2 and metabolic abnormalities responsible for congenital adrenal hyperplasia [REVIEW] PMID: 23044877
71. 78 CYP21A2 alleles were analyzed in 39 patients with congenital adrenal hyperplasia due to 21alpha-hydroxylase deficiency, and the most frequent point mutations in CYP21A2 were g.655A/C>G (33.33%), g.999T>A (14.10%) and g.1683G>T (7.69%). PMID: 21534945
72. A novel founder CYP21A2 mutation was identified. suggestedA further classification for CYP21A1P/CYP21A2 chimeras was suggested, depending on the combination of junction site position and whether it is occurred as a result of deletion or conversion. PMID: 23142378
73. normal clinically insignificant per se SNPs in unique combinations may influence spatial structure of CYP21A2 mRNA or its pre-mRNA splicing efficiency and decrease gene expression level. PMID: 23342490
74. Patients with increased 17OHP responses in the stimulation test also underwent 21-hydroxylase gene analysis. PMID: 23155693
75. congenital adrenal hyperplasia patients have increased C4 copy number variation, with mutation-specific associations that may be protective for autoimmune disease PMID: 22886582
76. Mutation R483W and P459H in the CYP21A2 is associated with virilizing form of congenital adrenal hyperplasia. PMID: 21750395
77. In this population-based survey of 21OHD, we identified four novel mutations and high concordance between genotype and phenotype. PMID: 22802425
78. 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 PMID: 22313422
79. Three novel single nucleotide polymorphism (SNP) loci were identified in the CYP21A2 gene which seems to be specific for the Tunisian population PMID: 22841790
80. Report role of CYP21 in metandienone metabolism. PMID: 22885098
81. Authors identified 2 novel CYP21A2 missense mutations (p.H282N and p.Y191H) in 2 Italian patients with simple-virilizing and nonclassic congenital adrenal hyperplasia forms. PMID: 22014889
82. A novel mutation leading to non-classical phenotype p.L198F is discovered in a Sicilian population. PMID: 21169732
83. The identification of a substitution in the 3'UTR of the gene associated with a mild form of non-classical congenital adrenal hyperplasia suggests the importance of analyzing the CYP21A2 untranslated regions. PMID: 21521936
84. Mutation analysis of the CYP21A2 gene in the Iranian population showed gene deletions and chimera were the most frequence followed by gene duplciation, and clustser mutations. PMID: 22017335
85. 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. PMID: 22497080
86. a rapid and accurate method for the molecular diagnosis of 21-hydroxylase deficiency, which relies on the identification of point mutations and structural rearrangements within the CYP21A2 gene. PMID: 22020670
87. high percentage of CYP21A2 affected alleles is detected by the 11-mutation screening study of congenital adrenal hyperplasi. PMID: 21609351
88. Data suggest that the upstream region of gene encoding CYP21B contains unique cAMP-responsive sequence and appears to bind unique nuclear proteins or transcription factors in adrenal cortex. [REVIEW] PMID: 22217838
89. Results provide hormonal and genetic evaluation to differentiate between heterozygous mutation carriers and non-carriers of 21-hydroxylase gene (CYP21) mutations. PMID: 20671415
90. The syndrome is characterised by a considerable correlation between the genotype and the phenotype with the type of CYP21A2 gene mutation affecting the severity of 21-hydroxylase deficiency. The clinical manifestations of Congenital Adrenal Hyperplasia PMID: 22127631
91. Non-classical congenital adrenal hyperplasia was defined in nine (5.7%) patients, all of whom had the V281L mutation. PMID: 22308849
92. p.His38Leu is a severe mutation causing a classical simple virilizing phenotype. PMID: 21912141
93. Disease-causing mutations were identified in 77 out of 91 alleles (84.6%) of the patients with congenital adrenal hyperplasia. PMID: 21274396
94. The frequency of various mutations in CYP21A2 in the studied patients differs from those reported in other Asian populations PMID: 21570420
95. Three novel mutations were found in the CYP21A2 gene and predicted to drastically impair enzyme activity resulting in severe classic congenital adrenal hyperplasia. PMID: 17573904
96. Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche. PMID: 21646284
97. The major new finding of this study is that human CYP21A2 can be re-engineered to a progesterone 16alpha-hydroxylase with a single amino acid substitution. PMID: 21446712
98. describe five CYP21A2 novel mutations, p.R132C, p.149C, p.M283V, p.E431K and a frameshift g.2511_2512delGG, in four non-classical and one salt wasting patients from Argentina PMID: 21264314
99. Chimeric CYP21A1P/CYP21A2 genes were present in 171 out of 508 mutated CYP21A2 alleles (33.8%). PMID: 20970527
100. Analysis of the CYP21A2 gene with intergenic recombination and multiple gene deletions in the RCCX module PMID: 21117955

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HGNC: 2600

OMIM: 201910

KEGG: hsa:1589

STRING: 9606.ENSP00000408860

UniGene: Hs.654479