PABPN1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PABPN1 wild-type allele is located in the vicinity of 14q11.2 and is approximately 5 kb in length. This allele, which encodes polyadenylate-binding protein 2, plays a role in polyadenylation and poly(A) tail binding. Expansion of a GCG trinucleotide repeat at the 5' end of the coding region from the normal 6 copies to 8-13 copies is associated with oculopharyngeal muscular dystrophy (OPMD).

**Synonyms:** - OPMD - PAB2 - PABII - PABP-2 - PABP2 - Poly(A) Binding Protein Nuclear 1 wt Allele - Poly(A) Binding Protein, Nuclear 1 Gene - Poly(A)-Binding Protein, Nuclear 1 Gene