| Modification Notes |
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. GNB1L (guanine nucleotide binding protein (G protein), beta polypeptide 1-like), also known as FKSG1, GY2, KIAA1645 or WDR14, is a 327 amino acid protein that exists as two alternatively spliced isoforms and contains six WD repeats. Expressed ubiquitously with highest levels present in spleen, liver, heart, kidney, pancreas and skeletal muscle, GNB1L is thought to play a role in the etiology of the velocardiofacial/DiGeorge syndrome (VCFS/DGS), a developmental disorder that is the result of a deletion on chromosome 22 and is associated with a variety of facial anomalies and cardiac malformations. |