Synonyms: AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG; NROB1
Storage: -20C
UNSPSC Code: 12352203
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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)
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.
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.SequenceIKCFLSKCWSLNISTKEYAYLKGTVLFNPDVPGLQCVKYIQGLQWGTQQILSEHTRMTHQGPHDRFIELNSTLFLLRFINANVIAELFFRPIIGTVSMDDMMLEMLCTKI
Physical form: Solution in phosphate buffered saline, pH 7.4
RIDADR: NONH for all modes of transport
WGK Germany: 3