Aliases for SPAST Gene
External Ids for SPAST Gene
Previous HGNC Symbols for SPAST Gene
Previous GeneCards Identifiers for SPAST Gene
This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, Jul 2008]
GeneCards Summary for SPAST Gene
SPAST (Spastin) is a Protein Coding gene. Diseases associated with SPAST include spastic paraplegia 4, autosomal dominant and spastic paraplegia 4. GO annotations related to this gene include microtubule binding and four-way junction helicase activity. An important paralog of this gene is FIGN.
UniProtKB/Swiss-Prot for SPAST Gene
ATP-dependent microtubule severing protein. Microtubule severing may promote reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Required for membrane traffic from the endoplasmic reticulum (ER) to the Golgi and for completion of the abscission stage of cytokinesis. May also play a role in axon growth and the formation of axonal branches.