Property Summary

NCBI Gene PubMed Count 296
PubMed Score 0.00
PubTator Score 1037.00

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P08686 A2BHY6 P04033 Q01204 Q08AG8 Q16749 Q16806 Q5ST44 Q96NU8
Symbols CAH1
CPS1
CA21H
CYP21
CYP21B
P450c21B

Gene

PDB

2GEG   4Y8W  

Gene RIF (237)

PMID Text
26903061 Mutations of CYP21A2 gene is associated with 21-hydroxylase deficiency.
26331608 Data suggest that the definitive diagnosis can be established based on steroid profile (USP) and/or 21-hydroxylase (CYP21A2) genetic testing.
26291314 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]
26278268 In current study, molecular testing of 21 patients with classic form of Congenital adrenal hyperplasia identified eight mutations of the CYP21A2 gene.
26233337 Novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations in Serbian patients with congenital adrenal hyperplasia.
26184415 The results suggest that the A>G variation in the Z promoter is involved in misregulating the transcriptional activity of the CYP21A2 gene.
26172259 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.
25970792 Prevalence of P30L, P453S, and V281L mutations of CYP21A2 gene is increased in patients with adrenocortical tumors.
25855791 The structure of the human P450 21A2-substrate complex provides direct insight into mechanistic effects of genetic variants.
25630015 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).
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AA Sequence

MLLLGLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDLPIYLLGLTQKFGPIYRLHLGLQDVVV      1 - 70
LNSKRTIEEAMVKKWADFAGRPEPLTYKLVSKNYPDLSLGDYSLLWKAHKKLTRSALLLGIRDSMEPVVE     71 - 140
QLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVD    141 - 210
VIPFLRFFPNPGLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGH    211 - 280
VHMAAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIA    281 - 350
EVLRLRPVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRFLEPGKNSRALA    351 - 420
FGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSP    421 - 490
GQNQ                                                                      491 - 494
//

Text Mined References (298)

PMID Year Title
26903061 2016 [Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China].
26331608 2016 The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis.
26291314 2016 A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
26278268 2015 Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia.
26233337 2015 Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.
26184415 2015 Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.
26172259 2015 Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia.
25970792 2015 Prevalence and Clinical Outcome of CYP21A2 Gene Mutations in Patients with Nonfunctional Adrenal Incidentalomas.
25855791 2015 Human Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase: STRUCTURE OF THE ENZYME·PROGESTERONE SUBSTRATE COMPLEX AND RATE-LIMITING C-H BOND CLEAVAGE.
25630015 2015 A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia.
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