EXOSC3 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human EXOSC3 wild-type allele is located in the vicinity of 9p13.2 and is approximately 73 kb in length. This allele, which encodes exosome complex component RRP40 protein, is involved in the regulation of the exoribonuclease activity of the exosome. Mutation of the gene is associated with pontocerebellar hypoplasia type 1B.

**Synonyms:** - CGI-102 - Exosome Complex Exonuclease RRP40 Gene - Exosome Component 3 wt Allele - Exosome Component Rrp40 Gene - PCH1B - RRP40 - Ribosomal RNA-Processing Protein 40, S. cerevisiae, Homolog of Gene - Rrp40p - bA3J10.7 - hRrp-40 - p10