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Genetics Home Reference: your guide to understanding genetic conditions
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PABPN1

Reviewed December 2008

What is the official name of the PABPN1 gene?

The official name of this gene is “poly(A) binding protein, nuclear 1.”

PABPN1 is the gene's official symbol. The PABPN1 gene is also known by other names, listed below.

What is the normal function of the PABPN1 gene?

The PABPN1 gene provides instructions for making a protein that is active (expressed) throughout the body. In cells, the PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints for making proteins. The PABPN1 protein attaches (binds) to the end of an mRNA molecule at a region called the polyadenine tail or poly(A) tail. Poly(A) tails consist of many adenine molecules, one of the building blocks of RNA and its chemical cousin, DNA. Poly(A) tails are needed to protect the mRNA from being broken down and allow the mRNA to move within cells. The PABPN1 protein helps add adenines to the poly(A) tail through a process called polyadenylation. The PABPN1 protein may also be involved in regulating mRNA production.

The PABPN1 protein contains an area where the protein building block (amino acid) alanine is repeated 10 times. This stretch of alanines is known as a polyalanine tract. The role of the polyalanine tract in normal PABPN1 protein function is unknown.

How are changes in the PABPN1 gene related to health conditions?

oculopharyngeal muscular dystrophy - caused by mutations in the PABPN1 gene

At least 10 different mutations in the PABPN1 gene have been found to cause oculopharyngeal muscular dystrophy. All of these mutations result in a PABPN1 protein with an expanded polyalanine tract that is 11 to 17 alanines long. The extra alanines cause the PABPN1 protein to form clumps within muscle cells that are thought to impair the normal functioning of muscle cells and eventually cause cell death. The progressive loss of muscle cells most likely causes the muscle weakness seen in people with oculopharyngeal muscular dystrophy.

Where is the PABPN1 gene located?

Cytogenetic Location: 14q11.2

Molecular Location on chromosome 14: base pairs 23,320,187 to 23,326,184

The PABPN1 gene is located on the long (q) arm of chromosome 14 at position 11.2.

The PABPN1 gene is located on the long (q) arm of chromosome 14 at position 11.2.

More precisely, the PABPN1 gene is located from base pair 23,320,187 to base pair 23,326,184 on chromosome 14.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about PABPN1?

You and your healthcare professional may find the following resources about PABPN1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PABPN1 gene or gene products?

  • OPMD
  • PAB2
  • PABP2
  • PABP2_HUMAN
  • poly(A) binding protein 2
  • poly(A) binding protein II

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding PABPN1?

adenine ; alanine ; amino acid ; cell ; DNA ; expressed ; gene ; molecule ; mRNA ; muscle cells ; muscular dystrophy ; polyadenylation ; protein ; RNA ; trinucleotide repeat

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Kühn U, Wahle E. Structure and function of poly(A) binding proteins. Biochim Biophys Acta. 2004 May 25;1678(2-3):67-84. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15157733?dopt=Abstract)
  • Marie-Josée Sasseville A, Caron AW, Bourget L, Klein AF, Dicaire MJ, Rouleau GA, Massie B, Langelier Y, Brais B. The dynamism of PABPN1 nuclear inclusions during the cell cycle. Neurobiol Dis. 2006 Sep;23(3):621-9. Epub 2006 Jul 24. (http://www.ncbi.nlm.nih.gov/pubmed/16860991?dopt=Abstract)
  • Müller T, Deschauer M, Kolbe-Fehr F, Zierz S. Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy. J Neurol. 2006 Jul;253(7):892-5. Epub 2006 Apr 20. (http://www.ncbi.nlm.nih.gov/pubmed/16619122?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8106)
  • OMIM: POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1 (http://omim.org/entry/602279)
  • Robinson DO, Hammans SR, Read SP, Sillibourne J. Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism. Hum Genet. 2005 Mar;116(4):267-71. Epub 2005 Jan 12. (http://www.ncbi.nlm.nih.gov/pubmed/15645184?dopt=Abstract)
  • Robinson DO, Wills AJ, Hammans SR, Read SP, Sillibourne J. Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation. J Med Genet. 2006 May;43(5):e23. (http://www.ncbi.nlm.nih.gov/pubmed/16648376?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: December 2008
Published: December 16, 2014