TOR1AIP2
torsin 1A interacting protein 2
Summary
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]
Known Variants7 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs114239460 | 1:179,817,650 | C/T | intron variant | — |
| rs367898216 | 1:179,820,016 | C/T | — | likely benign |
| rs775886374 | 1:179,820,232 | G/A | — | uncertain significance |
| rs751702177 | 1:179,820,399 | G/A | — | uncertain significance |
| rs1148812 | 1:179,823,825 | C/G | intron variant | — |
| rs191353556 | 1:179,843,709 | G/A | intron variant | — |
| rs589780 | 1:179,845,022 | G/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.