Recombinant Human NR0B1 / Dax1 protein (ab152174)
Key features and details
- Expression system: Wheat germ
- Suitable for: SDS-PAGE, ELISA, WB
Description
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Product name
Recombinant Human NR0B1 / Dax1 protein -
Expression system
Wheat germ -
Accession
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Protein length
Full length protein -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
MAGENHQWQGSILYNMLMSAKQTRAAPEAPETRLVDQCWGCSCGDEPGVG REGLLGGRNVALLYRCCFCGKDHPRQGSILYSMLTSAKQTYAAPKAPEAT LGPCWGCSCGSDPGVGRAGLPGGRPVALLYRCCFCGEDHPRQGSILYSLL TSSKQTHVAPAAPEARPGGAWWDRSYFAQRPGGKEALPGGRATALLYRCC FCGEDHPQQGSTLYCVPTSTNQAQAAPEERPRAPWWDTSSGALRPVALKS PQVVCEAASAGLLKTLRFVKYLPCFQVLPLDQQLVLVRNCWASLLMLELA QDRLQFETVEVSEPSMLQKILTTRRRETGGNEPLPVPTLQHHLAPPAEAR KVPSASQVQAIKCFLSKCWSLNISTKEYAYLKGTVLFNPDVPGLQCVKYI QGLQWGTQQILSEHTRMTHQGPHDRFIELNSTLFLLRFINANVIAELFFR PIIGTVSMDDMMLEMLCTKI -
Predicted molecular weight
78 kDa including tags -
Amino acids
1 to 470
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Associated products
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Related Products
Specifications
Our Abpromise guarantee covers the use of ab152174 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Applications
SDS-PAGE
ELISA
Western blot
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Form
Liquid -
Additional notes
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Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.31% Glutathione, 0.79% Tris HCl
General Info
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Alternative names
- AHC
- AHCH
- AHX
see all -
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. -
Involvement in disease
Defects in NR0B1 are the cause of X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]; also known as X-linked Addison disease (AHX). XL-AHC is a developmental disorder of the adrenal gland that results in profound hormonal deficiencies and is lethal if untreated. It is characterized by the absence of the permanent zone of the adrenal cortex and by a structural disorganization of the glands. Hypogonadotropic hypogonadism (HHG) is frequently associated with this disorder. HHG is a condition resulting from or characterized by abnormally decreased gonadal function, with retardation of growth and sexual development.
Defects in NR0B1 are the cause of 46,XY sex reversal type 2 (SRXY2) [MIM:300018]. It is a condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Note=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. -
Sequence similarities
Belongs to the nuclear hormone receptor family. NR0 subfamily. -
Domain
Homodimerization involved an interaction between amino and carboxy termini involving LXXLL motifs and steroid binding domain (AF-2 motif). Heterodimerizes with NR5A1 and NROB2 through its N-terminal LXXLL motifs. -
Cellular localization
Nucleus. Cytoplasm. Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus. - Information by UniProt
Protocols
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
Datasheets and documents
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Datasheet download
References (0)
ab152174 has not yet been referenced specifically in any publications.