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.
Other Names
38 kDa nuclear protein containing a WW domain; nuclear protein containing WW domain 38 kD; polyglutamine tract-binding protein 1; polyglutamine-binding protein 1; PQBP-1; PQBP1_HUMAN; RENS1
Related Genetics Topics
- Anophthalmia/Microphthalmia — MedlinePlus Genetics
- Coloboma — MedlinePlus Genetics
- Renpenning syndrome — MedlinePlus Genetics
Identifiers
- NCBI Gene: 10084
- OMIM: 300463
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
