EC Number   |
Application |
Reference |
|---|
   5.6.1.1 | medicine |
a major fraction of autosomal dominant cases of hereditary spastic paraplegia (HSP) is caused by mutations in SPG4 encoding spastin |
676169, 676802 |
| 5.6.1.1 | medicine |
hereditary spastic paraplegias (HSPs) are most commonly caused by mutations in the spastin gene |
673184 |
| 5.6.1.1 | medicine |
KSPA-1 inhibits the proliferation of tumor cells |
687306 |
| 5.6.1.1 | medicine |
mutations cause an autosomal dominant form of hereditary spastic paraplegia |
674997 |
| 5.6.1.1 | medicine |
mutations in the SPG4 gene, spastin is the SPG4 gene product, are the most common cause of autosomal dominant hereditary spastic paraplegia, HSP |
673941 |
| 5.6.1.1 | medicine |
spastin is frequently mutated in hereditary spastic paraplegia |
688520 |
| 5.6.1.1 | medicine |
spastin is mutated in the neurodegenerative disease hereditary spastic paraplegia |
687904 |
| 5.6.1.1 | medicine |
spastin is the most commonly mutated protein in hereditary spastic paraplegia |
689190 |
| 5.6.1.1 | medicine |
spg4, the gene encoding for spastin, is mutated in around 40% of cases of autosomal dominant hereditary spastic paraplegia |
688549 |
| 5.6.1.1 | medicine |
tauopathies |
675542 |
