PABPN1 poly(A) binding protein nuclear 1
Gene ID: 8106, updated on 29-Mar-2023Gene type: protein coding
Also known as: OPMD; PAB2; PABII; PABP2; PABP-2
- See all available tests in GTR for this gene
- Go to complete Gene record for PABPN1
- Go to Variation Viewer for PABPN1 variants
Summary
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. [provided by RefSeq, Dec 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Oculopharyngeal muscular dystrophy | See labs |
Genomic context
- Location:
- 14q11.2
- Sequence:
- Chromosome: 14; NC_000014.9 (23321457..23326163)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | GeneView ReportGo to Variation Viewer for PABPN1 variants |
| 1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PABPN1 homepage - Leiden Muscular Dystrophy pages
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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