|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “WNT1 inducible signaling pathway protein 3.”
WISP3 is the gene's official symbol. The WISP3 gene is also known by other names, listed below.
The WISP3 gene provides instructions for making a protein that appears to be involved in bone growth and the maintenance of cartilage, which covers and protects the ends of bones. The function of the WISP3 protein is not well understood. It is part of a family of proteins that are involved in the growth and maintenance of connective tissues, such as bone, cartilage, and blood vessels. The WISP3 protein is made in cells called chondrocytes, which produce and maintain cartilage, and is associated with the production of certain proteins that make up cartilage, but its role in their production is unclear. WISP3 may also help control signaling pathways involved in the development of cartilage and bone and may help regulate the breakdown of cartilage components.
Mutations in the WISP3 gene cause progressive pseudorheumatoid dysplasia (PPRD), which is a condition that causes stiffness and pain in the joints of the hands, hips, knees, and spine. The joint problems worsen over time, and movement in the joints becomes limited. Most of the mutations involved in this condition lead to production of an abnormally short WISP3 protein that is probably nonfunctional. Other mutations change single protein building blocks (amino acids) in the protein. Loss of WISP3 protein function likely disrupts normal cartilage maintenance and bone growth, leading to the joint problems in PPRD.
Cytogenetic Location: 6q21
Molecular Location on chromosome 6: base pairs 112,053,516 to 112,069,686
The WISP3 gene is located on the long (q) arm of chromosome 6 at position 21.
More precisely, the WISP3 gene is located from base pair 112,053,516 to base pair 112,069,686 on chromosome 6.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about WISP3 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; arthritis ; breakdown ; cartilage ; dysplasia ; gene ; idiopathic ; joint ; juvenile ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
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.