TEKT1
Tektin1 Gene: A Key Player in Cell Division and Neurodevelopment
Description:
The tektin1 gene, also known as TEK1 or TEKT1, encodes a protein called tektin-1. Tektin-1 is one of the key components of the cytoskeleton, a network of protein filaments that provides structural support and facilitates cellular movement. Specifically, tektin-1 is a component of the microtubule network, which plays a crucial role in cell division and transporting materials within the cell.
Associated Diseases:
Mutations in the tektin1 gene have been linked to several rare genetic disorders, including:
- Tektin-associated familial amyotrophic lateral sclerosis (ALS): This rare form of ALS is characterized by progressive muscle weakness and eventual paralysis. It is caused by mutations that disrupt the normal function of tektin-1 in motor neurons, leading to neuronal damage and loss.
- X-linked hydrocephalus: This condition is characterized by excessive accumulation of cerebrospinal fluid in the brain, causing enlargement of the skull. It is caused by mutations in the tektin1 gene that lead to abnormal development of the choroid plexus, a structure in the brain that produces cerebrospinal fluid.
- Polymicrogyria: This rare brain malformation is characterized by abnormal folding of the cerebral cortex, leading to intellectual disability and seizures. Mutations in the tektin1 gene have been associated with some cases of polymicrogyria.
Did you Know ?
Only about 1 in every 300 million people is affected by tektin-associated ALS, making it one of the rarest forms of ALS.
