ODAPH
Description
The ODAPH gene, officially known as ODA-like protein homolog, plays a vital role in the formation and function of cilia, tiny hair-like structures found on the surface of many cells. These cilia are essential for various cellular processes, including sensory perception, fluid movement, and cell signaling. Mutations in the ODAPH gene can disrupt the proper development and function of cilia, leading to a spectrum of genetic disorders.
Associated Diseases
- Joubert Syndrome
- Meckel-Gruber Syndrome
- Orofaciodigital Syndrome type VI
- Sensenbrenner Syndrome
- Renal-hepatic-pancreatic dysplasia
- Cerebro-oculo-facio-skeletal syndrome
Did you know?
ODAPH gene mutations are particularly linked to Joubert Syndrome, a rare genetic disorder characterized by distinctive brain malformations and associated neurological impairments.