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 residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''TOR1A''
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 ...
(also known as DQ2 or DYT1).
TorA localizes to the
endoplasmic reticulum
The endoplasmic reticulum (ER) is a part of a transportation system of the eukaryote, eukaryotic cell, and has many other important functions such as protein folding. The word endoplasmic means "within the cytoplasm", and reticulum is Latin for ...
and contiguous
perinuclear space, 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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