Spastin

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Spastin
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SPAST ; ADPSP; FSP2; SPG4
External IDs OMIM604277 MGI1858896 HomoloGene8970 GeneCards: SPAST Gene
EC number 3.6.4.3
RNA expression pattern
PBB GE SPAST 207724 s at tn.png
PBB GE SPAST 209748 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6683 50850
Ensembl ENSG00000021574 ENSMUSG00000024068
UniProt Q9UBP0 Q9QYY8
RefSeq (mRNA) NM_014946 NM_001162870
RefSeq (protein) NP_055761 NP_001156342
Location (UCSC) Chr 2:
32.29 – 32.38 Mb
Chr 17:
74.34 – 74.39 Mb
PubMed search [1] [2]

The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.[1]

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.[2]

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