Presku: | AAP45619 |
Size: | 100 ug |
Weight: | 52kDa |
Gene: | 2516 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | AD4BP; ELP; FTZ1; FTZF1; SF-1; SF1 |