SPAST Antibody – Rabbit Polyclonal

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]

spastin: ATP-dependent microtubule severing protein. Microtubule severing may promote reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Required for membrane traffic from the endoplasmic reticulum (ER) to the Golgi and for completion of the abscission stage of cytokinesis. May also play a role in axon growth and the formation of axonal branches. Defects in SPAST are the cause of spastic paraplegia autosomal dominant type 4 (SPG4). Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG4 is the most common form of autosomal dominant spastic paraplegias. Belongs to the AAA ATPase family. Spastin subfamily. 4 isoforms of the human protein are produced by alternative promoter.

Protein type: Cytoskeletal; EC 3.6.4.3; Membrane protein, integral

Chromosomal Location of Human Ortholog: 2p24-p21

Cellular Component: microtubule cytoskeleton; centrosome; microtubule; perinuclear region of cytoplasm; endoplasmic reticulum; cytoplasm; integral to membrane; spindle; cytoplasmic vesicle; midbody; nucleus; endosome

Molecular Function: protein binding; microtubule binding; beta-tubulin binding; microtubule-severing ATPase activity; ATP binding; alpha-tubulin binding

Biological Process: positive regulation of microtubule depolymerization; ER to Golgi vesicle-mediated transport; axonogenesis; metabolic process; microtubule severing; cytoplasmic microtubule organization and biogenesis; microtubule bundle formation; protein homooligomerization

Disease: Spastic Paraplegia 4, Autosomal Dominant