PABPN1
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.