SF-1 Polyclonal Antibody, 20ul Rotator Sporadic and familial mutations in

Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma

Both the intermediate and high affinity forms of the receptor are involved in receptor-mediated endocytosis and transduction of mitogenic signals from interleukin 2

These proteins are secreted

Consistent with the expression of the encoded protein in photoreceptor cells of the retina

and the growth of neuronal axons and dendrites

SF-1 Polyclonal Antibody, 20ul Rotator Sporadic and familial mutations inThe nuclear receptor subfamily 5 group A member 1 encoded by NR5A1 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.