基因名:
SPAST
产品别名:
ADPSP; FSP2; SPG4; SPAST; spastin; spastin; spastin; spastic paraplegia 4 (autosomal dominant; spastin); spastic paraplegia 4 protein; 纤维母细胞表面蛋白/Fibroblast Surface Protein;
背景信息:
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, Jul 2008]