SPG3A (NP_056999, 1 a.a. ~ 100 a.a) partial recombinant protein with GST tag. The sequence is MAKNRRDRNSWGGFSEKTYEWSSEEEEPVKKAGPVQVLIVKDDHSFELDETALNRILLSE AVRDKEVVAVSVAGAFRKGKSFLMDFMLRYMYNQESVDWV
The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene.
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