TCP11
TCP11 Gene: Unraveling its Significance in Human Health and Disease
Description
The TCP11 gene, also known as the T-complex protein 11, encodes a protein that plays a crucial role in numerous cellular processes, including transcription regulation, protein translation, and cell cycle progression. Located on chromosome 19q13.4, this gene spans over 200 kilobases and contains 28 exons.
Associated Diseases
Mutations in the TCP11 gene have been linked to a rare genetic disorder known as Joubert syndrome, which is characterized by a distinctive brain malformation known as the "molar tooth sign" on imaging tests. This condition can lead to developmental delays, intellectual disability, and a range of neurological symptoms.
Did you Know ?
Approximately 1 in 100,000 people worldwide are affected by Joubert syndrome, making it a relatively rare condition. However, it is the most common cause of molar tooth sign on brain scans.
