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PQBP1

PQBP1

Reviewed June 2012

What is the official name of the PQBP1 gene?

The official name of this gene is “polyglutamine binding protein 1.”

PQBP1 is the gene's official symbol. The PQBP1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the PQBP1 gene?

The PQBP1 gene provides instructions for making a protein called polyglutamine-binding protein 1. This protein attaches (binds) to stretches of multiple copies of a protein building block (amino acid) called glutamine in certain other proteins.

While the specific function of polyglutamine-binding protein 1 is not well understood, it is believed to play a role in processing and transporting RNA, a chemical cousin of DNA that serves as the genetic blueprint for the production of proteins.

In nerve cells (neurons) such as those in the brain, polyglutamine-binding protein 1 is found in structures called RNA granules. These granules allow the transport and storage of RNA within the cell. The RNA is held within the granules until the genetic information it carries is translated to produce proteins or until cellular signals or environmental factors trigger the RNA to be degraded. Through these mechanisms, polyglutamine-binding protein 1 is thought to help control the way genetic information is used (gene expression) in neurons. This control is important for normal brain development.

How are changes in the PQBP1 gene related to health conditions?

Renpenning syndrome - caused by mutations in the PQBP1 gene

At least 14 PQBP1 gene mutations have been identified in people with Renpenning syndrome, a disorder that occurs almost exclusively in males and causes intellectual disability and characteristic physical features. Most of the PQBP1 gene mutations that cause Renpenning syndrome result in an abnormally short polyglutamine-binding protein 1. The function of a shortened or otherwise abnormal protein is likely impaired and interferes with normal gene expression in neurons, resulting in abnormal development of the brain and the signs and symptoms of Renpenning syndrome.

Where is the PQBP1 gene located?

Cytogenetic Location: Xp11.23

Molecular Location on the X chromosome: base pairs 48,897,907 to 48,903,144

The PQBP1 gene is located on the short (p) arm of the X chromosome at position 11.23.

The PQBP1 gene is located on the short (p) arm of the X chromosome at position 11.23.

More precisely, the PQBP1 gene is located from base pair 48,897,907 to base pair 48,903,144 on the X chromosome.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PQBP1?

You and your healthcare professional may find the following resources about PQBP1 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 PQBP1 gene or gene products?

  • 38 kDa nuclear protein containing a WW domain
  • nuclear protein containing WW domain 38 kD
  • polyglutamine-binding protein 1
  • polyglutamine tract-binding protein 1
  • PQBP-1
  • PQBP1_HUMAN
  • RENS1

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding PQBP1?

amino acid ; cell ; disability ; DNA ; domain ; gene ; gene expression ; glutamine ; protein ; RNA ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (15 links)

 

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? in the Handbook.

 
Reviewed: June 2012
Published: August 18, 2014