EXOSC9 wt Allele

**Semantic type:** Gene or Genome

**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.

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