Symbol: Name: ID: |
SPAST spastin GFS:1127 |
Gene name: | SPAST |
Chromosome: | 2p24-p21 |
Previous Symbols: | SPG4 |
Previous Names: | spastic paraplegia 4 (autosomal dominant; spastin) |
Aliases: | FSP2, ADPSP, KIAA1083 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1858896 | Rat Genome Database ID: | |
HGNC ID: | HGNC:11233 | RefSeq IDs: | NM_014946 |
Entrez Gene ID: | 6683 | Ensembl Gene ID: | ENSG00000021574 |
VEGA IDs: | OTTHUMG00000128455 | UniProt ID: | Q9UBP0 |
UCSC ID: | uc002roc.2 | OMIM ID: | 604277 |
Pubmed: | PMID10493830 PMID 10610178 | ||
CCDS IDs: | CCDSCCDS1778.1 CCDS CCDS1779.1 |
The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin 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].
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.
Products for SPAST gene
Catalog | Product Name | Application | Company |
GFS:E01127 | spastin; ELISA kit | ELISA | n/a |
GFS:A01127 | spastin; Anti | ANTIBODIES | n/a |
GFS:P01127 | spastin; Protien | Protien | n/a |