Spastin

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SPAST
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases SPAST, ADPSP, FSP2, SPG4, spastin
External IDs MGI: 1858896 HomoloGene: 8970 GeneCards: 6683
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
Ensembl
UniProt
RefSeq (mRNA)

NM_014946
NM_199436

NM_001162870
NM_016962

RefSeq (protein)

NP_055761.2
NP_955468.1

NP_001156342.1
NP_058658.2

Location (UCSC) Chr 2: 32.06 – 32.16 Mb Chr 17: 74.34 – 74.39 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.[3]

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.[4]

See also[edit]

Spastic paraplegia

References[edit]

External links[edit]

Further reading[edit]