DDB1 and CUL4 associated factor 17
The DCAF17 gene provides instructions for making a protein whose function is unknown. The gene is active (expressed) in several organs and tissues in the body, including the brain, skin, and liver. Within cells, the protein produced from this gene is found in the nucleolus, which is a small region inside the nucleus where cell structures called ribosomes are assembled. It is not clear whether the DCAF17 protein plays a role in this process.
At least 11 DCAF17 gene mutations have been identified in people with Woodhouse-Sakati syndrome, a disorder that affects the body's network of hormone-producing glands (the endocrine system) and the nervous system. This condition is characterized by delayed or absent puberty, hair loss, abnormal movements, hearing loss, and intellectual disability.
Most of the DCAF17 gene mutations that cause Woodhouse-Sakati syndrome result in a protein that is abnormally short and breaks down quickly or whose usual function is impaired. Loss of DCAF17 protein function likely accounts for the features of Woodhouse-Sakati syndrome, although it is unclear how a shortage of this protein leads to hormone abnormalities and the other signs and symptoms of this condition.