FAM166B
Discovering FAM166B: A Fascinating Gene with Implications for Health and Disease
Description
FAM166B is a gene located on chromosome 16q24.1 in humans. It encodes a protein of 337 amino acids that is involved in various cellular processes, including lipid metabolism, membrane trafficking, and signal transduction.
Associated Diseases
Mutations in FAM166B have been linked to several genetic disorders, including:
- Autosomal recessive intellectual disability: Mutations in FAM166B can cause a form of intellectual disability characterized by delayed development, speech impairments, and movement difficulties.
- Ellis-van Creveld syndrome: This rare condition affects cartilage and bone development, leading to short stature, malformations of the hands and feet, and heart defects. Mutations in FAM166B account for approximately 30% of Ellis-van Creveld syndrome cases.
- Polycystic kidney disease (PKD): FAM166B mutations have been associated with an increased risk of autosomal dominant polycystic kidney disease, a condition where cysts develop in the kidneys.
- Cardiomyopathy: Mutations in FAM166B have also been linked to an increased risk of dilated cardiomyopathy, a condition characterized by a weakened and enlarged heart.
Did you Know ?
Approximately 1 in every 80,000 individuals is affected by Ellis-van Creveld syndrome, making it a relatively rare condition. However, mutations in FAM166B are estimated to account for approximately 10% of all intellectual disability cases.
