SOX17 Antibody – Rabbit Polyclonal

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008]

SOX17: Acts as transcription regulator that binds target promoter DNA and bends the DNA. Binds to the sequences 5'- AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal looping of the embryonic heart tube. Required for normal development of the definitive gut endoderm. Probable transcriptional activator in the premeiotic germ cells. Defects in SOX17 are the cause of vesicoureteral reflux type 3 (VUR3). VUR3 is a disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease.

Protein type: Transcription regulation; DNA-binding

Chromosomal Location of Human Ortholog: 8q11.23

Cellular Component: transcription factor complex; nucleus

Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; protein binding; sequence-specific DNA binding; protein heterodimerization activity; transcription coactivator activity; beta-catenin binding; transcription factor binding

Biological Process: endodermal cell fate determination; positive regulation of transcription, DNA-dependent; regulation of embryonic development; stem cell fate specification; negative regulation of transcription from RNA polymerase II promoter; Wnt receptor signaling pathway through beta-catenin; rostrocaudal neural tube patterning; negative regulation of mesodermal cell fate specification; regulation of transcription, DNA-dependent; embryonic foregut morphogenesis; inner cell mass cellular morphogenesis; heart looping; angiogenesis; vasculogenesis; cell migration involved in gastrulation; protein stabilization; protein destabilization; positive regulation of skeletal muscle development; mRNA transcription from RNA polymerase II promoter; endoderm formation; positive regulation of protein catabolic process; embryonic heart tube development; positive regulation of transcription from RNA polymerase II promoter; spermatogenesis; negative regulation of cell growth; positive regulation of cell differentiation

Disease: Vesicoureteral Reflux 3