WDR77
The WDR77 Gene: A Key Player in Tooth Development and Beyond
Description
The WDR77 gene, located on chromosome 11q23.3, encodes a protein known as WD repeat-containing protein 77. This protein plays a crucial role in numerous cellular processes, including transcription, DNA damage response, and cell cycle regulation. In particular, WDR77 is essential for the proper development and mineralization of teeth.
Associated Diseases
Mutations in the WDR77 gene have been linked to several rare genetic disorders, primarily affecting the teeth and craniofacial structures. These disorders include:
- Amelogenesis Imperfecta (AI): A group of inherited conditions characterized by defects in the enamel of the teeth, leading to weakened and discolored teeth.
- Dentin Dysplasia Type I (DD1): A condition that affects the formation of dentin, the layer beneath the enamel, resulting in abnormally thin and brittle teeth.
- Odontoonychodermal Dysplasia (OOD): A rare syndrome that affects the development of teeth, fingernails, and skin.
Did you Know ?
According to the National Institutes of Health, amelogenesis imperfecta affects approximately 1 in 14,000 people worldwide. Mutations in the WDR77 gene account for about 20-25% of AI cases.
