The human
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
SPAST codes for the
microtubule
Microtubules are polymers of tubulin that form part of the cytoskeleton and provide structure and shape to eukaryotic cells. Microtubules can be as long as 50 micrometres, as wide as 23 to 27 nanometer, nm and have an inner diameter bet ...
-severing
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
of the same name, commonly known as spastin.
This gene encodes a member of the
AAA
AAA, Triple A, or Triple-A is a three-letter initialism or abbreviation which may refer to:
Arts, entertainment, and media
Gaming
* AAA (video game industry) - a category of high budget video games
*'' TripleA'', an open source wargame
Mu ...
(ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an
ATPase
ATPases (, Adenosine 5'-TriPhosphatase, adenylpyrophosphatase, ATP monophosphatase, triphosphatase, ATP hydrolase, adenosine triphosphatase) are a class of enzymes that catalyze the decomposition of ATP into ADP and a free phosphate ion or ...
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
Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive Gait abnormality, gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. HSP is als ...
4 (SPG4).
See also
Spastic paraplegia
Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive Gait abnormality, gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. HSP is als ...
Microtubule-associated protein
In cell biology, microtubule-associated proteins (MAPs) are proteins that interact with the microtubules of the cellular cytoskeleton. MAPs are integral to the stability of the cell and its internal structures and the transport of components withi ...
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia Type 4
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Cytoskeletal defects
Inherited disorders of trafficking
Genetic diseases and disorders
Cytoskeleton proteins
Gait abnormalities