WD Repeat Containing Domain Protein 54 (WDR54)

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. WDR54 (WD repeat-containing protein 54) is a 334 amino acid protein that contains four WD repeats and is encoded by a gene that maps to human chromosome 2p13.1. Chromosome 2 consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2 including Harlequin icthyosis, sitosterolemia and Alström syndrome.