ⓘ Spastin

                                     

ⓘ Spastin

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

This gene encodes a member Attas AAA associated with various cellular activities family protein. Members of this family of proteins share a domain of ATPase and its role in various cellular processes, including trafficking of membrane, intracellular motility, organelle biogenesis, protein folding and proteolysis. Encoded ATPase may be involved in Assembly or function of nuclear protein complexes. Two transcripts encoding different isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequence has not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4.

                                     
  • Li D, Ma Y, Yan J, Yang B, Li P, Yu A, Lu C, Ma X July 2012 Role of spastin and protrudin in neurite outgrowth Journal of Cellular Biochemistry.
  • in 1 of just 3 genes: spastin atlastin - 1 and REEP1. Atlastin - 1 also participates in the generation of tubular ER, whereas spastin is an ATPase linked to
  • SE, Sanderson CM Dec 2004 The hereditary spastic paraplegia protein spastin interacts with the ESCRT - III complex - associated endosomal protein CHMP1B
  • gene list below, including their mode of inheritance. Some examples are spastin SPG4 and paraplegin SPG7 are both AAA ATPases. The genes are designated
  • AU, Boehm J, Sauter SM, Rauber A, Byrne PC, Neesen J, Engel W 2007 Spastin the most commonly mutated protein in hereditary spastic paraplegia interacts
  • 2003 The identification of a conserved domain in both spartin and spastin mutated in hereditary spastic paraplegia Genomics. 81 4 437 41. doi: 10
  • motifs. These motifs are responsible for binding Vps4 and the AAA - ATPase spastin The Vps4 - Vta1 proteins are required for the stripping of other ESCRT components