WDR17 Background Information
WD-repeats are motifs that are found in a variety of proteins and are characterized by a conserved core of 40-60 amino acids that commonly form a tertiary propeller structure. While proteins that contain WD-repeats participate in a wide range of cellular functions, they are generally involved in regulatory mechanisms concerning chromatin assembly, cell cycle control, signal transduction, RNA processing, apoptosis and vesicular trafficking. WDR17 (WD repeat domain 17) is a 1,322 amino acid protein containing WD repeats, which is expressed in testis and retina and is found at lower levels in brain, colon, thymus, bone marrow, uterus and skeletal muscle. Possibly involved in retinal development, WDR17 is encoded by a gene located on human chromosome 4, which represents approximately 6% of the human genome, contains nearly 900 genes and is associated with Huntington's disease, Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.
