TCP10
The TCP10 gene is a crucial player in cellular function, encoding a protein that acts as a chaperone, assisting in the proper folding and assembly of other proteins. It is located on chromosome 7 in humans and consists of 16 exons. The TCP10 protein is highly conserved across various species, highlighting its essential role in maintaining cellular homeostasis.
Mutations in the TCP10 gene have been linked to several diseases, including:
- Joubert Syndrome: A rare genetic disorder characterized by developmental brain abnormalities, intellectual disability, and ataxia. TCP10 mutations account for approximately 10% of Joubert Syndrome cases.
- Nephronophthisis: A kidney disorder that leads to progressive loss of kidney function in children. TCP10 mutations are associated with the juvenile form of nephronophthisis, which typically manifests between the ages of 5 and 15.
- Senior-Løken Syndrome: A rare condition characterized by intellectual disability, delayed development, and a distinctive facial appearance. Mutations in TCP10 are responsible for a subset of Senior-Løken Syndrome cases.
Did you Know ?
Approximately 1 in 12,500 people worldwide are estimated to carry a mutation in the TCP10 gene. These mutations can be inherited or occur spontaneously.
