Spastin
Product Specifications
Gene Name
[SPAST]
NCBI Gene ID
6683
Reactivity
Human, Mouse, Rat
Storage Conditions
Antibody with azide: store at 2 to 8 degree C.<br>Antibody without azide: store at -20 to -80 degree C.<br>Antibody is stable for 24 months. Non-hazardous. No MSDS required.
Specificity
The AAA protein family members share an ATPase domain and have roles in various cellular processes including intracellular motility, membrane trafficking, proteolysis, protein folding and organelle biogenesis. Spastin, a member of the AAA protein family, is a 616 amino acid protein and is involved in the function or assembly of nuclear protein complexes. The Spastin protein is expressed ubiquitously and localizes to the nucleus and the cytoplasm, where it may also be involved in microtubule dynamics. Mutations in the Spastin gene (SPAST, SPG4) cause the most common form of spastic paraplegia 4, an autosomal dominant form of hereditary spastic paraplegia (HSP). HSPs comprise a group of inherited neurological disorders characterized by spastic lower extremity weakness due to a length-dependent, retrograde axonopathy of corticospinal motor neurons. SPAST-specific mutations account for approximately 40% of all autosomal dominant HSPs.
Other Gene Names
[SPAST; spas; FSP2; SPG4; ADPSP]
Short Name
[Spastin]
Other Product Names
[spastin, isoform E; Spastin; spastin; spastin; D-Spastin; Dm-Spastin; Dspastin]
NCBI GI Number
939620306
NCBI GB Accession Number
NP_001303438.1
Uniprot Accession Number
Q8I0P1
Available Sizes
Curated Selection
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