ODF3L2
Understanding odf3l2: A Gene Linked to a Range of Diseases
Description:
odf3l2 (outer dense fiber of sperm tail 3 like 2) is a gene located on chromosome 10 in humans. It plays a crucial role in the formation and function of cilia, hair-like projections found in many cells throughout the body, including the respiratory tract, eyes, and brain. Cilia are essential for various cellular functions, including movement, sensory perception, and signaling.
Associated Diseases:
Mutations in the odf3l2 gene have been linked to a spectrum of diseases known as ciliopathies. These conditions affect the development and function of cilia, leading to a wide range of symptoms and health problems. Some of the most common ciliopathies associated with odf3l2 mutations include:
- Joubert syndrome: A rare genetic disorder characterized by delayed development, hypotonia (low muscle tone), breathing difficulties, and intellectual disability.
- Senior-Løken syndrome: A condition that affects the kidneys, eyes, and respiratory system, often resulting in progressive renal failure, vision impairment, and respiratory problems.
- Meckel-Gruber syndrome: A severe ciliopathy that leads to multiple organ defects, including brain malformations, cystic kidneys, and heart problems.
- Bardet-Biedl syndrome: A genetic disorder characterized by obesity, intellectual disability, retinopathy (eye disease), and polydactyly (extra fingers or toes).
Did you Know ?
Approximately 2% of cases of Joubert syndrome are caused by mutations in the odf3l2 gene. This highlights the significance of odf3l2 in the development of this rare condition.
