PABPN1 wt Allele

Preferred Label : PABPN1 wt Allele;

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

NCIt 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).;

NCI Metathesaurus CUI : CL1926437;

GenBank Accession Number : AF026029;

Details

Origin ID

C204163;

UMLS CUI

C5890855;

OMIM relation
- Polyadenylate-binding protein, nuclear, 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q11.2 [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- RNA Binding [NCIt concept]
- RNA Polyadenylation [NCIt concept]
- mRNA Export [NCIt concept]
- mRNA Surveillance [NCIt concept]

Keyword's position in hierarchy(ies) :

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