Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
PRPF3

PRPF3

The information on this page was automatically extracted from online scientific databases.

What is the official name of the PRPF3 gene?

The official name of this gene is “pre-mRNA processing factor 3.”

PRPF3 is the gene's official symbol. The PRPF3 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 PRPF3 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Participates in pre-mRNA splicing. Part of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome.

How are changes in the PRPF3 gene related to health conditions?

Genetics Home Reference provides information about retinitis pigmentosa, which is associated with changes in the PRPF3 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the PRPF3 gene's known or predicted involvement in human disease.

Retinitis pigmentosa 18 (RP18): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PRPF3 gene.
  • Retinitis pigmentosa 18
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the PRPF3 gene and its association with health conditions.
OMIM
Number
Title

Where is the PRPF3 gene located?

Cytogenetic Location: 1q21.1

Molecular Location on chromosome 1: base pairs 150,321,478 to 150,353,227

The PRPF3 gene is located on the long (q) arm of chromosome 1 at position 21.1.

The PRPF3 gene is located on the long (q) arm of chromosome 1 at position 21.1.

More precisely, the PRPF3 gene is located from base pair 150,321,478 to base pair 150,353,227 on chromosome 1.

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

Where can I find additional information about PRPF3?

You and your healthcare professional may find the following resources about PRPF3 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 PRPF3 gene or gene products?

  • HPRP3
  • HPRP3P
  • PRP3
  • Prp3p
  • RP18
  • SNRNP90

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 PRPF3?

fundus ; gene ; gene product ; mRNA ; peripheral ; photoreceptor ; pigment ; splicing

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

See also Understanding Medical Terminology.

 

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.

 
Published: December 22, 2014