PABPN1

(redirected from PABP2)

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.
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References in periodicals archive ?
3] The PABN1 gene, also known as PABP2, encoding the polyadenylate binding protein nuclear 1, has a polyalanine tract in the N-terminal end.
Exon 1 AD Huntington tipo 2 Distrofia muscular NO Codifica AR oculofaringea AD Epilepsia mioclonica NO 3'NC AR progresiva Ataxia espinocerebelar SI Intron 9 AD 10 Gen Proteina Influencia del sexo padres Sindrome X fragil A FMR1 FMRP Materna (FRAXA) Sindrome X fragil E FMR2 Proteina FMR2 ND (FRAXE) Distrofia miotonica DMPK Miotonina Materna Distrofia miotonica ZNF9 Proteina dedos Tipo 2 de cinc 9 Ataxia de Friedriech X25 Frataxina Materna Ataxia espinocerebelar SCA8 ARN Materna Tipo 8 antisentido Enfermedad similar a JPH3 Juntofilina 3 ND Huntington tipo 2 Distrofia muscular PABP2 Proteina 2 que ND oculofaringea enlaza a poliadeninas Epilepsia mioclonica CSTB Cistatina B Paterna progresiva (EPMI) Ataxia espinocerebelar SCA 10 Ataxina 10 ?