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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?
Where is the PQBP1 gene located?
Cytogenetic Location: Xp11.23
Molecular Location on the X chromosome: base pairs 48,897,912 to 48,903,145
(Homo sapiens Annotation Release 107, GRCh38.p2) (
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 48,897,912 to base pair 48,903,145 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?
See How are genetic conditions and genes named? in the Handbook.
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?
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.