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Proteintech
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Immunogen sequence: MADSGLREP QEDSQKDLEN DPSVNSQAQE TTIIASNAEE AEILHSACGL SKDHQEVETE GPESADTGDK SESPDEANVG KHPKDKTEDE NKQSFLDGGK GHHLPSENLG KEPLDPDPSH SPSDKVGRAD AHLGSSSVAL PKEASDGTGA SQEPPTTDSQ EAQSPGHSSA GQEGEDTLRR RLLAPEAGSH PQQTQKLEEI KENAQDTMRQ INKKGFWSYG PVILVVLVVA VVASSVNSYY SSPAQQVPKN PALEAFLAQF SQLEDKFPGQ SSFLWQRGRK FLQKHLNASN PTEPATIIFT AAREGRETLK CLSHHVADAY TSSQKVSPIQ IDGAGRTWQD (1-339 aa encoded by BC101532)
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 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: IFRG15; LULL1; NET9; TOR1AIP2
UniProt ID: (Human) Q9H496
Entrez Gene ID: (Human) 163590