One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this gene is an interferon alpha responsive protein whose cellular role has yet to be determined. [provided by RefSeq, Mar 2017]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
TOR1AIP2-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
TOR1AIP2-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
TOR1AIP2-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
TOR1AIP2-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
TOR1AIP2-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this gene is an interferon alpha responsive protein whose cellular role has yet to be determined. [provided by RefSeq, Mar 2017]
Gene Symbol : TOR1AIP2
Gene Name : Torsin 1A interacting protein 2
Chromosome : CHR 1: 179,878,613-179,839,966
Locus : 1q25.2
Alt. Genes : DNAJA2
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