NR5A1 (or steroidogenic factor 1) is a nuclear receptor that modulates the transcription of genes involved in the hypothalamic-pituitary-steroidogenic axis. Mutations in NR5A1 have been linked to ovarian insufficiency and congenital adrenal hypoplasia. Rabbit Anti-NR5A1 antibody recognizes bovine, canine, human, mouse, rat, and pig NR5A1.
Immunogen
Synthetic peptide directed towards the middle region of human NR5A1
Application
Rabbit Anti-NR5A1 antibody can be used for western blot (2.0μg/ml) and immunohistochemistry (4-8μg/ml, using paraffin embedded tissues) assays.
Biochem/physiol Actions
NR5A1 is an important regulator of steroidogeneisis which is present in human skin and its appendages. It plays a role in regulating p450scc expression with TReP-132 and CBP/p300. The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.
Sequence
Synthetic peptide located within the following region: AVPGAHGPLAGYLYPAFPGRAIKSEYPEPYASPPQPGLPYGYPEPFSGGP
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
Disclaimer
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
The New England journal of medicine, 360(12), 1200-1210 (2009-02-28)
The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of sex development
Adrenal hypoplasia congenita (AHC) causes primary adrenal insufficiency due to the failure of development of the adrenal cortex. Clinical and pedigree data indicate that the condition is genetically heterogeneous. The predominant adrenal hypoplasia congenita locus, however, is the NR0B1 gene
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