The human
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
SPAST codes for the
microtubule-severing
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
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:
Airports
* Anaa Airport in French Polynesia (IATA airport code AAA)
* Logan County Airport (Illinois) (FAA airport code AAA)
Arts, entertainment, and me ...
(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.
See also
Spastic paraplegia
Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness ( spasticity) and contraction in the lower limbs. HSP is also known as heredita ...
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
External links
GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia Type 4
{{gene-2-stub