SPG21 Human

Mutations in the SPG21 gene cause Mast syndrome, an autosomal-recessive complicated form of hereditary spastic paraplegia . Mast syndrome is characterized by progressive weakness and spasticity of the lower limbs, dementia, thin corpus callosum, and white matter abnormalities . This neurodegenerative disorder leads to a slow, gradual decline in motor function, significantly impacting the quality of life of affected individuals.

The recombinant human SPG21 protein is produced using Escherichia coli (E. coli) expression systems . The protein is typically fused with a His-tag at the N-terminus to facilitate purification and detection . The recombinant protein is purified using conventional chromatography techniques to achieve high purity levels, often exceeding 95% .

Recombinant SPG21 protein is used in various research applications, including studies on T-cell activation and the molecular mechanisms underlying Mast syndrome . It serves as a valuable tool for understanding the pathophysiology of hereditary spastic paraplegia and for developing potential therapeutic interventions.

The recombinant SPG21 protein should be stored at 4°C for short-term use and at -20°C for long-term storage . It is essential to avoid freeze-thaw cycles to maintain the protein’s stability and functionality .