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pabpn1

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Official Full Name
poly(A) binding protein, nuclear 1
Background
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.
Synonyms
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