Torsin-1A (TorA) also known as dystonia 1 protein (DYT1) is a
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 ...
that in humans is encoded by the ''TOR1A''
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 ...
(also known as DQ2 or DYT1).
TorA localizes to the
endoplasmic reticulum and contiguous
perinuclear space
The nuclear envelope, also known as the nuclear membrane, is made up of two lipid bilayer membranes that in eukaryotic cells surround the nucleus, which encloses the genetic material.
The nuclear envelope consists of two lipid bilayer membra ...
, where its ATPase activity is activated by either LULL1 or
LAP1, respectively.
Function
The protein encoded by this gene is a member of the
AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family.
Clinical significance
Mutations in this gene result in the autosomal dominant disorder,
torsion dystonia 1.
References
Further reading
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External links
GeneReview/NIH/UW entry on Early-Onset Primary Dystonia
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