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Torsin-1A (TorA) also known as dystonia 1 protein (DYT1) is a protein that in humans is encoded by the TOR1A gene (also known as DQ2 or DYT1). [5] TorA localizes to the endoplasmic reticulum and contiguous perinuclear space , where its ATPase activity is activated by either LULL1 or LAP1 , respectively.
Torsion dystonia, also known as dystonia musculorum deformans, is a disease characterized by painful muscle contractions resulting in uncontrollable distortions. This specific type of dystonia is frequently found in children, with symptoms starting around the ages of 11 or 12. It commonly begins with contractions in one general area such as an ...
30933 Ensembl ENSG00000160404 ENSMUSG00000009563 UniProt Q5JU69 Q8N2E6 P0C7W3 Q8R1J9 RefSeq (mRNA) NM_001085347 NM_001134430 NM_001134431 NM_001252018 NM_001252021 NM_001252023 NM_130459 NM_152800 RefSeq (protein) NP_001078816 NP_001127902 NP_001127903 NP_001238947 NP_001238950 NP_001238952 NP_569726 NP_001127902.1 NP_690013 NP_001356151 NP_001356152 NP_001356153 NP_001356154 Location (UCSC ...
Download as PDF; Printable version; In other projects Wikimedia Commons; ... Pages in category "Dystonia" The following 12 pages are in this category, out of 12 total.
Torsin-1A-interacting protein 1 is a protein that in humans is encoded by the TOR1AIP1 gene. [5] [6] [7] More commonly known as lamina associated polypeptide 1 (LAP1), it is a type II integral membrane protein that resides in the inner nuclear membrane. The luminal domain of LAP1 interacts with Torsin A and is necessary for the ATPase activity ...
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In 2018, he started the Dystonia Recovery Online Program, aiming to provide wider access to treatment methods. [ 2 ] [ 6 ] Farias has also worked as a coach for musicians, as well as with Olympic and Paralympic athletes, and dancers, focusing on the recovery from focal dystonia and other practice-related disorders.