TOR1AIP2
Gene Information
- Official Symbol: TOR1AIP2
- Official Name: torsin 1A interacting protein 2
- Aliases and Previous Symbols: N/A
- Entrez ID: 163590
- UniProt: Q9H496"|"Q8NFQ8|Q9H496"
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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].
- UniProt Summary: N/A
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 17591
- Expression level (log2 read counts): 7.11