SPG11 : SPG11 vesicle trafficking associated, spatacsin
Description
The SPG11 gene, located on chromosome 15, provides instructions for making a protein called spastin. Spastin is essential for the proper function of microtubules, which are protein structures that act like tracks inside cells, transporting essential components and helping maintain cell shape. Mutations in the SPG11 gene disrupt spastin‘s function, leading to a buildup of microtubules and ultimately causing a group of inherited neurological disorders known as hereditary spastic paraplegias (HSPs).
Associated Diseases
- Hereditary Spastic Paraplegia (HSP)
- Spastic paraplegia 11 (SPG11)
- Autosomal Dominant Hereditary Spastic Paraplegia 11 (AD-HSP11)
- Autosomal Recessive Hereditary Spastic Paraplegia 11 (AR-HSP11)
- Complex Hereditary Spastic Paraplegia (cHSP)
Did you know?
SPG11 is the most commonly mutated gene associated with hereditary spastic paraplegia, accounting for around 10% of cases.
