PABPN1 | definition of PABPN1 by Medical dictionary
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PABPN1 A gene on chromosome 14q11.2-q13 that encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. PABPN1 is required for progressive and efficient polymerisation of poly(A) tails at the 3' ends of eukaryotic transcripts, and it controls the size of the poly(A) tail to roughly 250 nucleotides.
PABPN1 contains GCG trinucleotide repeats at the 5' end of the coding region; expansion of GCG repeats from the normal 6 copies to 8–13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy.
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References in periodicals archive
[12.] Rodriguez M, Camejo C, Bertoni B, et al (GCG)11 founder mutation in the PABPN1
gene of OPMD Uruguayan families.
NS1 protein is also involved in inhibiting 3' end processing of host mRNA by binding to CPSF 30 (cleavage and polyadenylation specificity factor 30) and PABPN1
(poly(A) binding protein nuclear 1) .
OPMD is a neuromuscular disease caused by mutations in the gene coding for polyA-binding protein nuclear 1 (PABPN1
According to the company, BB-301 is a ddRNAi therapeutic for the treatment of OPMD comprised of a single expression construct for the 'knockdown and replace strategy' of mutant PABPN1
, the principle cellular component that leads to the diseased condition in humans.