USB1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human USB1 wild-type allele is located in the vicinity of 16q21 and is approximately 22 kb in length. This allele, which encodes U6 snRNA phosphodiesterase protein, plays a role in the maturation of U6 snRNA. Mutations in the gene are associated with poikiloderma with neutropenia.

**Synonyms:** - C16orf57 - Chromosome 16 Open Reading Frame 57 Gene - FLJ13154 - HVSL Motif Containing 1 Gene - HVSL1 - Mpn1 - PN - Poikiloderma with Neutropenia Gene - Poikiloderma with Neutropenia Protein 1 Gene - Putative U6 snRNA Phosphodiesterase Gene - U Six Biogenesis 1 Gene - U6 snRNA Biogenesis 1 Gene - U6 snRNA Biogenesis Phosphodiesterase 1 wt Allele - hUsb1