Polyadenylate-binding protein nuclear 1 (PABPN1)

Polyadenylate-binding protein nuclear 1 (PABPN1) is a ubiquitously expressed RNA-binding protein crucial for the maturation of mRNA transcripts in eukaryotic cells[1][5]. It binds to nascent poly(A) tails at the 3' end of pre-mRNAs in the nucleus, stimulating polyadenylation and controlling poly(A) tail length, which in turn regulates mRNA stability and nuclear export[1][5][7]. PABPN1 also influences the turnover of long non-coding RNAs through a polyadenylation-dependent decay mechanism[3], and may participate in RNA splicing and quality control[2]. Mutations in the PABPN1 gene, specifically expansions of an N-terminal polyalanine tract, cause oculopharyngeal muscular dystrophy (OPMD), a late-onset degenerative muscle disorder characterized by progressive eyelid drooping, dysphagia, and muscle weakness[2][6]. PABPN1's essential and non-redundant function is demonstrated by the lethality of PABPN1 knockout in animal models[7]. Currently, no approved drugs target PABPN1, but gene therapy approaches are under investigation for OPMD[2].

Other names

Poly(A)-binding protein nuclear 1Polyadenylate-binding protein 2PAB2PABP2PABP-2Poly(A)-binding protein IIPABIIOPMD protein

No approved drugs currently target PABPN1 directly. Gene therapy approaches are being investigated involving replacement of wild-type PABPN1[2].