Mouse Anti-HSD3B2 Recombinant Antibody (373CT9.1.3) (CBMAB-H3037-FY)

Name: Mouse Anti-HSD3B2 Recombinant Antibody (373CT9.1.3)
SKU: CBMAB-H3037-FY
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

373CT9.1.3

Application

WB, FC

Specificity

Human

Antibody Isotype

IgG1

Clonality

Monoclonal

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

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

Format

Liquid

Concentration

1 mg/mL

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

More Infomation

Target

Full Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Introduction

The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene.

Entrez Gene ID

3284

UniProt ID

P26439

Alternative Names

Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 2; 3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type II; Short Chain Dehydrogenase/Reductase Family 11E, Member 2; 3-Beta-HSD Adrenal And Gonadal Type; 3-Beta-HSD II; 3 Beta-Hydroxysteroid Dehydrogenase Type II, Delta 5-Delta 4-Isomerase Type II, 3 Beta-HSD Type II; 3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type 2; 3-Beta-Hydroxy-Delta(5)-Steroid Dehydrogenase; 3-Beta-Hydroxy-5-Ene Steroid Dehydrogenase

Function

3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta5-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.

Biological Process

Androgen biosynthetic process Source: UniProtKB
C21-steroid hormone metabolic process Source: GO_Central
Hippocampus development Source: GO_Central
Response to corticosterone Source: GO_Central
Steroid biosynthetic process Source: UniProtKB

Cellular Location

Mitochondrion membrane; Endoplasmic reticulum membrane

Involvement in disease

Adrenal hyperplasia 2 (AH2):
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). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life. Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormone hypersecretion.

Topology

Helical: 287-307

Almaramhy, H. H., Abdul Samad, F., Al-Harbi, G., Zaytuni, D., Imam, S. N., Masoodi, T., & Shamsi, M. B. (2023). Identification of a novel candidate HSD3B2 gene variant for familial hypospadias by whole-exome sequencing. Frontiers in Genetics, 14, 1106933.

Makretskaya, N., Kalinchenko, N., Tebieva, I., Ionova, S., Zinchenko, R., Marakhonov, A., & Tiulpakov, A. (2023). High carrier frequency of a nonsense p. Trp230* variant in HSD3B2 gene in Ossetians. Frontiers in Endocrinology, 14, 1146768.

Mellone, S., Bertelli, E., Roviglione, B., Vurchio, D., Ronzani, S., Secco, A., ... & Giordano, M. (2022). Co-occurrence of a pathogenic HSD3B2 variant and a duplication on 10q22. 3-q23. 2 detected in newborn twins with salt-wasting congenital adrenal hyperplasia. Genes, 13(12), 2190.

Fanis, P., Neocleous, V., Kosta, K., Karipiadou, A., Hartmann, M. F., Wudy, S. A., ... & Papagianni, M. (2021). Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene. Journal of Pediatric Endocrinology and Metabolism, 34(1), 131-136.

Giri, D., Bockenhauer, D., Deshpande, C., Achermann, J. C., Taylor, N. F., Rumsby, G., ... & Ajzensztejn, M. (2020). Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations. Hormone Research in Paediatrics, 93(2), 137-142.

Yu, J., Liu, Y., Zhang, D., Zhai, D., Song, L., Cai, Z., & Yu, C. (2019). Baicalin inhibits recruitment of GATA1 to the HSD3B2 promoter and reverses hyperandrogenism of PCOS. Journal of Endocrinology, 240(3), 497-507.

Baquedano, M. S., Guercio, G., Costanzo, M., Marino, R., Rivarola, M. A., & Belgorosky, A. (2018). Mutation of HSD3B2 gene and fate of dehydroepiandrosterone. Vitamins and Hormones, 108, 75-123.

Osiński, M., Wirstlein, P., Wender-Ożegowska, E., Mikołajczyk, M., Jagodziński, P. P., & Szczepańska, M. (2018). HSD3B2, HSD17B1, HSD17B2, ESR1, ESR2 and AR expression in infertile women with endometriosis. Ginekologia polska, 89(3), 125-134.

Neubauer, E., Latif, M., Krause, J., Heumann, A., Armbrust, M., Luehr, C., ... & Büscheck, F. (2018). Up regulation of the steroid hormone synthesis regulator HSD3B2 is linked to early PSA recurrence in prostate cancer. Experimental and molecular pathology, 105(1), 50-56.

Zhang, C., Wang, M., He, N., Ahmed, M. F., Wang, Y., Zhao, R., ... & Li, B. (2018). Hsd3b2 associated in modulating steroid hormone synthesis pathway regulates the differentiation of chicken embryonic stem cells into spermatogonial stem cells. Journal of Cellular Biochemistry, 119(1), 1111-1121.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

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

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