Rabbit monoclonal [EPR11695(B)] to Steroidogenic Factor 1 / SF-1
WBmore details Unsuitable for:
Flow Cyt,ICC,IHC-P or IP
Mouse, Rat, Human
Synthetic peptide corresponding to Human Steroidogenic Factor 1/ SF-1. Database link: Q13285
Jurkat and HepG2 cell lysates.
Previously labelled as Steroidogenic Factor 1.
Our RabMAb® technology is a patented hybridoma-based technology for making rabbit monoclonal antibodies. For details on our patents, please refer to RabMab® patents.
We are constantly working hard to ensure we provide our customers with best in class antibodies. As a result of this work we are pleased to now offer this antibody in purified format. We are in the process of updating our datasheets. The purified format is designated 'PUR' on our product labels. If you have any questions regarding this update, please contact our Scientific Support team.
Transcriptional activator. Seems to be essential for sexual differentiation and formation of the primary steroidogenic tissues. Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1. The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional avtivity. Binds phosphatidylcholine (By similarity). Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3.
Involvement in disease
Defects in NR5A1 are a cause of 46,XY disorder of sex development (46,XY DSD) [MIM:612965]; also known as XY sex reversal with or without adrenal failure. A congenital condition in which development of chromosomal, gonadal, or antomic sex is atypical. 46,XY DSD is a disorder of gonadal (testicular) development, which may be complete or partial. The complete form includes streak gonads, normal mullerian structures, and normal female external genitalia. The partial form includes ambiguous external genitalia and partial development of mullerian and wolffian structures. Defects in NR5A1 are a cause of adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]. ACIWOD is characterized by severe 'slackness' muscular hypotonia. There is decreased sodium, increased potassium and elevated ACTH. Defects in NR5A1 are the cause of premature ovarian failure type 7 (POF7) [MIM:612964]. An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
Belongs to the nuclear hormone receptor family. NR5 subfamily. Contains 1 nuclear receptor DNA-binding domain.
Acetylation stimulates the transcriptional activity.