SPAG11B
Discover the Spag11b Gene: A Key Player in Neurological Health
Introduction
The Spag11b gene, located on chromosome 1q23.3, is responsible for providing instructions for the production of a protein called spastin. This protein plays a crucial role in maintaining the health and function of our nervous system.
Description
Spastin is a microtubule-severing enzyme that helps regulate the length and dynamics of microtubules, which are essential for cell division, cell migration, and axonal transport. Microtubules are long, thin protein structures that form the cytoskeleton of cells, providing structural support and facilitating intracellular movement.
Associated Diseases
Mutations in the Spag11b gene can lead to several neurological disorders, including:
- Hereditary spastic paraplegia type 11 (HSP11): A progressive neurodegenerative disorder that primarily affects the lower extremities, causing weakness, spasticity, and difficulty walking.
- Infantile-onset ascending hereditary spastic paralysis (IAHSP): A rare and severe form of HSP that manifests in infancy with weakness and spasticity that rapidly progresses to paralysis.
- Troyer syndrome: A neurodevelopmental disorder characterized by intellectual disability, facial dysmorphism, microcephaly, and motor impairments.
Did you Know ?
Approximately 1 in 100,000 people worldwide are affected by HSP11, the most common form of Spag11b-related disorders.
