Dosage-Sensitive Sex Reversal,Adrenal Hypoplasia Critical Region,On Chromosome X,Gene 1

For Research Use Only. Not for use in diagnostic procedures.

E Coli
Source: Prokaryotic expression

> 90%

Freeze-dried powder

Avoid repeated freeze/thaw cycles. Store at 2-8 degree C for one month. Aliquot and store at -80 degree C for 12 months.
The thermal stability is described by the loss rate. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37 degree C for 48h, and no obvious degradation and precipitation were observed. The loss rate is less than 5% within the expiration date under appropriate storage condition.

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Small volumes of NR0B1 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

SDS-PAGE; Western Blot (WB); ELISA (EIA); Immunoprecipitation (IP)

Predicted: 28.4kDa

nuclear receptor subfamily 0 group B member 1

nuclear receptor subfamily 0 group B member 1

Nuclear receptor subfamily 0 group B member 1

AHC; DAX1??[Similar Products]

NR0B1_HUMAN

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, Jul 2008]

NR0B1: 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. Homodimerizes with STF-1, NR5A2, NR0B2 and with COPS2. Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus. Homodimerization involved an interaction between amino and carboxy termini involving LXXLL motifs and steroid binding domain (AF-2 motif). Heterodimerizes with STF-1 and NROB2 through its N-terminal LXXLL motifs. Defects in NR0B1 are the cause of congenital X-linked adrenal hypoplasia. Two alternatively spliced human isoforms have been described.

Protein type: Nuclear receptor

Chromosomal Location of Human Ortholog: Xp21.3

Cellular Component: cytoplasm; membrane; nucleoplasm; nucleus; polysomal ribosome

Molecular Function: DNA binding; DNA hairpin binding; ligand-dependent nuclear receptor activity; protein binding; protein domain specific binding; protein homodimerization activity; RNA binding; sequence-specific DNA binding; steroid hormone receptor binding; transcription corepressor activity; transcription factor binding

Biological Process: adrenal gland development; gonad development; male gonad development; negative regulation of steroid hormone receptor signaling pathway; negative regulation of transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; protein localization; steroid biosynthetic process; transcription initiation from RNA polymerase II promoter

Disease: 46,xy Sex Reversal 2; Adrenal Hypoplasia, Congenital

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