[5][6] PABN1 is a member of a larger family of poly(A)-binding proteins in the human genome.

This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails.

The protein is required for progressive and efficient polymerization of poly(A) tails on the 3' ends of eukaryotic genes and controls the size of the poly(A) tail to about 250 nt.

An expansion of the trinucleotide (GCN) repeat from normal 10 to 11-17 at the 5' end of the coding region of this gene leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease.

One splice variant includes introns 1 and 6 but no protein is formed.