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Human Polyclonal CYP21A2 Primary Antibody for FACS, IF - ABIN652409
OShaughnessy, Monteiro, Bhattacharya, Fraser, Fowler: Steroidogenic enzyme expression in the human fetal liver and potential role in the endocrinology of pregnancy. in Molecular human reproduction 2013
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.
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 (show REN Antibodies) 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.
Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21-hydroxylase deficiency in a Chinese pedigree has been reported.
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.
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.
Mutation in the CYP21A2 gene is associated with nonclassical 21-hydroxylase deficiency and final height.
CAH (show CA1 Antibodies) 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 (show NPPA Antibodies))by direct mutation analysis along with MLPA is a feasible strategy that can be offered to families at risk
Association of HLA alleles and haplotypes with CYP21A2 gene p. V282L mutation in the Croatian population has been reported.
Study describes a biallelic TNXB (show TNXB Antibodies) 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.
Variations in CYP21A2 gene is associated with Congenital Adrenal Hyperplasia.
Cyp21a1 remains expressed in the most distal structure of the developing lung even though these structures are changing, but its expression is not restricted to these areas.
Extra-adrenal induction of Cyp21a1 ameliorates steroid metabolism in 21-OHD mice. This study suggests a novel therapeutic strategy for congenital adrenal hyperplasia, which warrants further investigations.
It plays a role on cortisol production and depends on stress. And expression of CYP21 protein will provide the basis for information and better understanding of the mechanisms related to drip loss in pork.
CYP21 gene polymorphisms were analyzed in association with litter size.
The mRNA expression of P450Arom (show CYP19A1 Antibodies) was detected using RT-PCR analysis in both hypothalamic and cortical primary cell cultures. P450Arom (show CYP19A1 Antibodies) was identified in both neurons and astrocytes
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.
, cytochrome P450 21
, cytochrome P450 XXI
, cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2
, cytochrome P450-C21B
, steroid 21-hydroxylase
, steroid 21-monooxygenase
, cytochrome P-450
, cytochrome P-450c21
, cytochrome P450 hydroxylase A
, cytochrome P450, 21, pseudogene
, cytochrome P450, 21, steroid 21 hydroxylase
, cytochrome P450, family 21, subfamily a, polypeptide 2, pseudogene
, cytochrome P450-C21
, steroid 21 hydroxylase
, Cytochrome P450 subfamily XXI (steroid 21-hydroxylase)
, cytochrome P450 21 steroid 21 hydroxylase
, cytochrome P450, subfamily 21A, polypeptide 1
, cytochrome P450, subfamily XXI (steroid 21-hydroxylase)
, cytochrome P450, family 21, subfamily A
, FK506 binding protein like
, cytochrome P450 21-hydroxylase
, Cytochrome P-450c21
, Cytochrome P450 21
, Cytochrome P450 XXI
, Cytochrome P450-C21