形式 |
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.
|
復(fù)溶 |
Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements. Braschinsky M, et al. BMC Neurol, 2010 Mar 9. PMID 20214791.Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. Park SH, et al. J Clin Invest, 2010 Apr 1. PMID 20200447.Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia. Du F, et al. Hum Mol Genet, 2010 May 15. PMID 20154342.A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia. Lim JS, et al. J Neurol Sci, 2010 Mar 15. PMID 19939411.Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia. Magariello A, et al. J Neurol Sci, 2010 Jan 15. PMID 19875132.
|