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Mouse Anti-CYP21A2 Recombinant Antibody (EG887) (V2LY-0125-LY931)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
EG887
Antibody Isotype
IgG1
Application
WB

Basic Information

Immunogen
Human recombinant protein fragment of human CYP21A2 produced in E.coli.
Host Species
Mouse
Specificity
Human
Antibody Isotype
IgG1
Clonality
Monoclonal Antibody
Application Notes
ApplicationNote
WB1:500

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
BSA, Glycerol & PBS
Preservative
Sodium Azide
Concentration
1 mg/mL
Purity
>95% as determined by analysis by SDS-PAGE
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
Cytochrome P450 Family 21 Subfamily A Member 2
Entrez Gene ID
1589
UniProt ID
P08686
Function
A cytochrome P450 monooxygenase that plays a major role in adrenal steroidogenesis. Catalyzes the hydroxylation at C-21 of progesterone and 17alpha-hydroxyprogesterone to respectively form 11-deoxycorticosterone and 11-deoxycortisol, intermediate metabolites in the biosynthetic pathway of mineralocorticoids and glucocorticoids (PubMed:25855791, PubMed:10602386, PubMed:16984992, PubMed:22014889, PubMed:27721825).

Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:25855791).
Biological Process
Glucocorticoid biosynthetic process Source: GO_Central
Mineralocorticoid biosynthetic process Source: Reactome
Steroid biosynthetic process Source: UniProtKB
Steroid metabolic process Source: UniProtKB
Sterol metabolic process Source: Reactome
Cellular Location
Endoplasmic reticulum membrane; Microsome membrane
Involvement in disease
Adrenal hyperplasia 3 (AH3):
A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic).
More Infomation

Gangodkar, P., Khadilkar, V., Raghupathy, P., Kumar, R., Dayal, A. A., Dayal, D., ... & Khadilkar, A. (2021). Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21-hydroxylase congenital adrenal hyperplasia from India. Endocrine, 71(1), 189-198.

Prado, M. J., Singh, S., Ligabue-Braun, R., Meneghetti, B. V., Rispoli, T., Kopacek, C., ... & Pandey, A. V. (2021). Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations. International journal of molecular sciences, 23(1), 296.

Cohen, M., Pignatti, E., Dines, M., Mory, A., Ekhilevitch, N., Kolodny, R., ... & Tiosano, D. (2020). In silico structural and biochemical functional analysis of a novel CYP21A2 pathogenic variant. International journal of molecular sciences, 21(16), 5857.

Lin, B., Zhang, H., & Zheng, Q. (2020). How do mutations affect the structural characteristics and substrate binding of CYP21A2? An investigation by molecular dynamics simulations. Physical Chemistry Chemical Physics, 22(16), 8870-8877.

Malikova, J., Zingg, T., Fingerhut, R., Sluka, S., Grössl, M., Brixius-Anderko, S., ... & Flück, C. E. (2019). HIV drug efavirenz inhibits CYP21A2 activity with possible clinical implications. Hormone research in paediatrics, 91(4), 262-270.

Santos-Silva, R., Cardoso, R., Lopes, L., Fonseca, M., Espada, F., Sampaio, L., ... & Borges, T. (2019). CYP21A2 gene pathogenic variants: a multicenter study on genotype–phenotype correlation from a Portuguese pediatric cohort. Hormone Research in Paediatrics, 91(1), 33-45.

Concolino, P., & Costella, A. (2018). Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency: a comprehensive focus on 233 pathogenic variants of CYP21A2 gene. Molecular diagnosis & therapy, 22(3), 261-280.

Simonetti, L., Bruque, C. D., Fernández, C. S., Benavides‐Mori, B., Delea, M., Kolomenski, J. E., ... & Dain, L. (2018). CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants. Human mutation, 39(1), 5-22.

Khajuria, R., Walia, R., Bhansali, A., & Prasad, R. (2017). The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort. Clinica Chimica Acta, 464, 189-194.

Concolino, P., Rizza, R., Costella, A., Carrozza, C., Zuppi, C., & Capoluongo, E. (2017). CYP21A2 intronic variants causing 21-hydroxylase deficiency. Metabolism, 71, 46-51.

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For research use only. Not intended for any clinical use.

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