CCDC181


ccdc181: Unraveling the Enigma of a Gene Linked to a Spectrum of Neurological Disorders

Description

ccdc181 (coiled-coil domain containing 181) is a gene that plays a pivotal role in the development and function of the nervous system. It encodes a protein that localizes to the cilia, small hair-like structures that extend from the surface of many cells. Cilia are crucial for sensory perception, cell signaling, and fluid flow.

Associated Diseases

Mutations in ccdc181 have been implicated in a spectrum of neurological disorders, including:

  • Joubert syndrome: A rare condition characterized by developmental delay, hypotonia (low muscle tone), and a characteristic brain malformation known as the "molar tooth sign."
  • Meckel-Gruber syndrome: A fatal birth defect characterized by severe brain and kidney malformations.
  • Nephronophthisis: A rare kidney disease characterized by the progressive loss of kidney function leading to end-stage renal failure.
  • Leber congenital amaurosis (LCA): A rare form of blindness caused by retinal degeneration.

Did you Know ?

Approximately 25% of individuals with Joubert syndrome have mutations in ccdc181, making it one of the most common genetic causes of this condition.



Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.