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Key Documents

SAB1403533

Sigma-Aldrich

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

clone 2F12, purified immunoglobulin, buffered aqueous solution

Synonym(s):

AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG, NROB1

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About This Item

UNSPSC Code:
12352203
NACRES:
NA.41

biological source

mouse

Quality Level

conjugate

unconjugated

antibody form

purified immunoglobulin

antibody product type

primary antibodies

clone

2F12, monoclonal

form

buffered aqueous solution

mol wt

antigen ~38.21 kDa

species reactivity

human

technique(s)

capture ELISA: suitable
indirect ELISA: suitable
indirect immunofluorescence: suitable

isotype

IgG2aκ

NCBI accession no.

UniProt accession no.

shipped in

dry ice

storage temp.

−20°C

target post-translational modification

unmodified

Gene Information

human ... NR0B1(190)

General description

Nuclear receptor subfamily 0 group B member 1 (NR0B1), also known as dosage-sensitive sex-reversal, adrenal hypoplasia congenital critical region on the X chromosome, protein 1 (DAX1), is an orphan nuclear receptor. The gene encoding this 470-amino acid protein consists of two exons. The protein possesses a carboxy-terminal domain (CTD) and an amino-terminal domain (NTD) which has three short repeats, each containing an LXXLL motif. NR0B1 is expressed in the anterior pituitary, hypothalamus, adrenal cortex and gonads. The gene is localized on human chromosome Xp21.

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

Nuclear receptor subfamily 0 group B member 1 (NR0B1) has adrenal and reproductive functions. It acts as a repressor of gene transcription. The protein inhibits the functioning of steroidogenic factor 1 (SF-1), an orphan nuclear receptor. Mutations in the NR0B1 gene have been associated with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

Physical form

Solution in phosphate buffered saline, pH 7.4

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Storage Class Code

10 - Combustible liquids

WGK

WGK 1

Flash Point(F)

Not applicable

Flash Point(C)

Not applicable


Certificates of Analysis (COA)

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X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and in vitro study of a novel small indel in the NR0B1 gene.
Yu T
Molecular Medicine Reports (2016)
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 (2017)

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