PABPN1


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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.

Molecular pathology
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 ?
sup][12] OPMD mainly manifested by limb weakness and oculopharyngeal muscle weakness caused by abnormal (GCG) n expansions of the first exon in PABPN1 gene.
Rodriguez M, Camejo C, Bertoni B, et al (GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families.
Rivera D, Mejia-Lopez H, Pompa-Mera EN, et al Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects.