Function
Transcriptional activator. 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.
Biological Context
Subcellular Location: Nucleus
Tissue Specificity: High expressed in the adrenal cortex, the ovary, the testis, and the spleen
Disease Association: 46,XY sex reversal 3 (SRXY3) : A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. [The disease is caused by variants affecting the gene represented in this entry] | 46,XX sex reversal 4 (SRXX4) : A condition in which male gonads develop in a genetic female (female to male sex reversal). [The disease is caused by variants affecting the gene represented in this entry] | Adrenal insufficiency, NR5A1-related (AINR) : A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt-wasting crisis, prolonged jaundice, hypoglycemia, and vomiting. [The disease is caused by variants affecting the gene represented in this entry] | Premature ovarian failure 7 (POF7) : 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. [The disease is caused by variants affecting the gene represented in this entry] | Spermatogenic failure 8 (SPGF8) : An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Steroidogenic factor 1 (NR5A1) Protein is a recombinant protein from Homo sapiens (Human), expressed in in vitro E.coli expression system, covering amino acids 1-461aa, with N-terminal 10xHis-tagged and C-terminal Myc-tagged tag, molecular weight 59.1kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
