" /> EXOSC9 wt Allele - CISMeF





Preferred Label : EXOSC9 wt Allele;

NCIt synonyms : PMSCL Autoantigen, 75kD Gene; Polymyositis/Scleroderma Autoantigen 1, 75kDa Gene; RRP45; PMSCL1; Polymyositis/Scleroderma Autoantigen 1, 75-kD Gene; Polymyositis/Scleroderma Autoantigen 1 (75kD) Gene; Rrp45p; PMSCL Autoantigen, 75-kD Gene; PM/Scl-75; p5; p6; Exosome Component 9 wt Allele; PCH1D; Exosome Complex Exonuclease RRP45 Gene;

NCIt definition : Human EXOSC9 wild-type allele is located in the vicinity of 4q27 and is approximately 16 kb in length. This allele, which encodes exosome complex component RRP45, plays a role in exosome formation and RNA substrate recognition. Mutations in the gene are associated with pontocerebellar hypoplasia 1D.;

GenBank Accession Number : M58460;

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09/05/2025


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