Mouse Anti-NR0B1 Antibody (1F12) (CBMAB-0746-YC)

Name: Mouse Anti-NR0B1 Antibody (1F12)
SKU: CBMAB-0746-YC
Rating: 5 (1 reviews)

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Datasheet

SDS

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

Basic Information

Host Animal

Mouse

Clone

1F12

Application

IP, WB, MA

Immunogen

Recombinant protein

Specificity

Human, Chicken

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

Supernatant

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

NR0B1

Introduction

NR0B1 (nuclear receptor subfamily 0, group B, member 1) is a protein that contains a DNA-binding domain. NR0B1 acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. And NR0B1 also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in NR0B1 gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.

Entrez Gene ID

Human	190
Chicken	395285

UniProt ID

Human	P51843
Chicken	F1NRP9

Alternative Names

AHC; AHCH; DAX1; DSS; NR0B1

Function

Orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity).

Biological Process

Adrenal gland developmentManual Assertion Based On ExperimentIMP:HGNC-UCL
Gonad developmentManual Assertion Based On ExperimentIMP:HGNC-UCL
Hypothalamus development1 PublicationNAS:UniProtKB
Leydig cell differentiationIEA:Ensembl
Male gonad developmentManual Assertion Based On ExperimentIMP:UniProtKB
Male sex determinationIEA:Ensembl
Negative regulation of DNA-binding transcription factor activityManual Assertion Based On ExperimentIMP:BHF-UCL
Negative regulation of intracellular steroid hormone receptor signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of steroid biosynthetic processManual Assertion Based On ExperimentIDA:HGNC-UCL
Negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Negative regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:HGNC-UCL
Pituitary gland development1 PublicationNAS:UniProtKB
Protein localizationManual Assertion Based On ExperimentIDA:UniProtKB
Response to immobilization stressIEA:Ensembl
Sertoli cell differentiationIEA:Ensembl
SpermatogenesisManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Nucleus
Cytoplasm
Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus.

Involvement in disease

Adrenal hypoplasia, congenital (AHC):
A disorder of adrenal gland development characterized by absence of the permanent zone of the adrenal cortex, structural disorganization of the adrenal glands, adrenal insufficiency and profound hormonal deficiencies. AHC patients manifest primary adrenal failure usually in early infancy, and hypogonadotropic hypogonadism leading to absent or incomplete sexual maturation. AHC can be inherited in an X-linked or autosomal recessive pattern.
46,XY sex reversal 2 (SRXY2):
The disease is caused by variants affecting the gene represented in this entry. XY individuals with a duplication of part of the short arm of the X chromosome and an intact SRY gene develop as females. The single X chromosome in these individuals does not undergo X-chromosome inactivation; therefore, these individuals presumably carry 2 active copies of genes, including the NR0B1 gene, in the duplicated region. Individuals with deletion of this region develop as males. Genes within the dosage-sensitive sex reversal region are, therefore, not essential for testis development, but, when present in a double dose, interfere with testis formation.

Veyt, N., Van Buggenhout, G., Devriendt, K., Van Den Bogaert, K., & Brison, N. (2024). Expanding the phenotype of copy number variations involving NR0B1 (DAX1). European Journal of Human Genetics, 1-5.

Zhang, X. Y., Zhang, H., Hu, S. J., Liao, S. Y., Tao, D. C., Tan, X. L., ... & Liu, Y. Q. (2023). NR0B1 suppresses ferroptosis through upregulation of NRF2/c-JUN-CBS signaling pathway in lung cancer cells. American Journal of Cancer Research, 13(11), 5174.

Tan, X. L., Wang, Z., Liao, S., Yi, M., Tao, D., Zhang, X., ... & Liu, Y. Q. (2023). NR0B1 augments sorafenib resistance in hepatocellular carcinoma through promoting autophagy and inhibiting apoptosis. Cancer Science.

Francese-Santos, A. P., Meinel, J. A., Piveta, C. S., Andrade, J. G., Barros, B. A., Fabbri-Scallet, H., ... & Maciel-Guerra, A. T. (2022). A Novel Look at Dosage-Sensitive Sex Locus Xp21. 2 in a Case of 46, XY Partial Gonadal Dysgenesis without NR0B1 Duplication. International Journal of Molecular Sciences, 24(1), 494.

Zhu, F., Zhou, M., Deng, X., Li, Y., & Xiong, J. (2022). Case report: a novel truncating variant of NR0B1 presented with X-linked late-onset adrenal hypoplasia congenita with hypogonadotropic hypogonadism. Frontiers in Endocrinology, 13, 897069.

Ramos, L. (2022). WT1, NR0B1, NR5A1, LHX9, ZFP92, ZNF275, INSL3, and NRIP1 genetic variants in patients with premature ovarian insufficiency in a Mexican cohort. Genes, 13(4), 611.

Haynes, J. M., Sibuea, S. M., Aguiar, A. A., Li, F., Ho, J. K., & Pouton, C. W. (2021). Inhibition of β-catenin dependent WNT signalling upregulates the transcriptional repressor NR0B1 and downregulates markers of an A9 phenotype in human embryonic stem cell-derived dopaminergic neurons: Implications for Parkinson’s disease. Plos one, 16(12), e0261730.

Hasegawa, Y., Takahashi, Y., Kezuka, Y., Obara, W., Kato, Y., Tamura, S., ... & Ishigaki, Y. (2021). Identification and analysis of a novel NR0B1 mutation in late-onset adrenal hypoplasia congenita and hypogonadism. Journal of the Endocrine Society, 5(2), bvaa176.

Vargas, M. C. C., Moura, F. S., Elias, C. P., Carvalho, S. R., Rassi, N., Kunii, I. S., ... & Costa-Barbosa, F. A. (2020). Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation. BMC Endocrine Disorders, 20(1), 1-7.

Iughetti, L., Lucaccioni, L., Bruzzi, P., Ciancia, S., Bigi, E., Madeo, S. F., ... & Roucher-Boulez, F. (2019). Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report. BMC Medical Genetics, 20(1), 1-8.

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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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