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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 15 kDa interferon-responsive protein; IFRG15; interferon alpha responsive gene, 15 kDa; interferon alpha responsive protein (15 kDa); interferon alpha responsive protein; torsin-1A-interacting protein 2; interferon responsive gene 15; lumenal domain like LAP1; Lumenal domain-like LAP1; RP11-12M5.5; torsin A interacting protein 2; Torsin-1A-interacting protein 2; Torsin-1A-interacting protein 2, isoform IFRG15
基因别名: 1110020D10Rik; 15kDa; A130072J07; AA103493; AW060462; AW610675; C77739; IFRG15; LULL1; NET9; TOR1AIP2
UniProt ID: (Human) Q9H496, (Mouse) Q9ER81, (Rat) Q6P752
Entrez Gene ID: (Human) 163590, (Mouse) 240832, (Rat) 304881