Official Full Name
poly(A) binding protein, nuclear 1
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 at the 3 ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5 end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene.
PABPN1; poly(A) binding protein, nuclear 1; OPMD, PABP2, poly(A) binding protein, nuclear 1; polyadenylate-binding protein 2; PAB2; Nuclear poly(A) binding protein 1; PABII; PABP2; Poly(A) binding protein 2; Polyadenylate binding nuclear protein 1; Polyadenylate binding protein 2; ROX2; OTTHUMP00000164595; OTTHUMP00000164596; OTTHUMP00000246235; OTTHUMP00000246236; poly(A) binding protein II; OPMD; PABP-2; fb19c03; zgc:85979; zgc:92452; wu:fb17e03; wu:fb18c06; wu:fb19c03