SAB1402110

Sigma-Aldrich

Monoclonal Anti-NR0B1, (C-terminal) antibody produced in mouse

clone 1F10, purified immunoglobulin, buffered aqueous solution

Synonym(s):
NROB1, AHCH, DAX-1, DSS, GTD, HHG, AHC, AHX, DAX1
NACRES:
NA.41

Quality Level

biological source

mouse

antibody form

purified immunoglobulin

antibody product type

primary antibodies

clone

1F10, monoclonal

form

buffered aqueous solution

mol wt

antigen ~38.21 kDa

species reactivity

human

application(s)

capture ELISA: suitable
direct immunofluorescence: suitable
indirect ELISA: suitable
western blot: 1-5 μg/mL

isotype

IgG3κ

conjugate

unconjugated

NCBI accession no.

UniProt accession no.

shipped in

dry ice

storage temp.

−20°C

Gene Information

human ... NR0B1(190)

General description

This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. (provided by RefSeq)

Immunogen

NR0B1 (NP_000466, 361 a.a. ~ 470 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.

Sequence
IKCFLSKCWSLNISTKEYAYLKGTVLFNPDVPGLQCVKYIQGLQWGTQQILSEHTRMTHQGPHDRFIELNSTLFLLRFINANVIAELFFRPIIGTVSMDDMMLEMLCTKI

Biochem/physiol Actions

The encoded orphan nuclear receptor is involved in the growth and activity of the adrenal and reproductive organs. It is significantly associated with the growth of gonads, development of sexual characteristics and steroidogenesis. The expression of NR0B1 (nuclear receptor subfamily 0 group B member 1) gene is regulated by Nanog (transcription factor). NR0B1 is known to control pluripotency and differentiation of embryonic stem cells in mice. Mutation in NR0B1 is importantly associated with X-linked adrenal hypoplasia congenita. Mutations in NR0B1 is also known to downregulate the androgen receptor activity, also leading to defect in spermatogenesis.

Physical form

Solution in phosphate buffered saline, pH 7.4

RIDADR

NONH for all modes of transport

WGK Germany

WGK 3

Flash Point(F)

Not applicable

Flash Point(C)

Not applicable

Certificate of Analysis

Certificate of Origin

A Novel Mutation of DAX-1 Associated with Secretory Azoospermia.
Mou L
PLoS ONE, 10(7), 1-11 (2015)
DAX1 Overexpression in Pediatric Adrenocortical Tumors: A Synergic Role with SF1 in Tumorigenesis.
de Sousa GR
Hormone and Metabolic Research, 47(9), 656-661 (2015)
A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogonadotropic hypogonadism.
Liu Y
Journal of Pediatric Endocrinology & Metabolism : JPEM, 30(3), 349-353 (2017)
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
Barbaro M
The Journal of Clinical Endocrinology and Metabolism, 92(8), 3305-3313 (2007)
Yanxia Liu et al.
Journal of pediatric endocrinology & metabolism : JPEM, 30(3), 349-353 (2017-03-12)
Background The DAX-1 gene is associated with X-linked adrenal hypoplasia congenita (AHC). Our objective was to compare the DAX-1 gene sequence of two male siblings exhibiting different clinical manifestations of AHC. Methods Clinical features were analyzed and laboratory data were...

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