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The official name of this gene is “wingless-type MMTV integration site family, member 3.”
WNT3 is the gene's official symbol. The WNT3 gene is also known by other names, listed below.
The WNT3 gene is part of a large family of WNT genes, which play critical roles in development before birth. WNT genes provide instructions for making proteins that participate in chemical signaling pathways in the body. These pathways control the activity of certain genes and regulate the interactions between cells during embryonic development.
Research in animals indicates that the protein produced from the WNT3 gene is critical for the outgrowth of the limbs in the developing embryo. The WNT3 protein also appears to play an important role in determining the anterior-posterior axis (the imaginary line that runs from head to tail in animals) during the earliest stages of embryonic development. Additionally, the effects of mutations in the human WNT3 gene suggest that the protein may be involved in the normal formation of the facial features, head, heart, lungs, nervous system, skeleton, and genitalia.
The WNT3 gene belongs to a family of genes called endogenous ligands (endogenous ligands). It also belongs to a family of genes called WNT (wingless-type MMTV integration sites).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
A mutation in the WNT3 gene has been shown to cause tetra-amelia syndrome among members of one large family from Turkey. This mutation, which occurs in both copies of the WNT3 gene in each cell, replaces one protein building block (amino acid) with a premature stop signal in the instructions for making the WNT3 protein. This mutation is written as Gln83Ter or Q83X.
Researchers believe that the Gln83Ter mutation results in the production of an abnormally short, nonfunctional version of the WNT3 protein. Loss of the WNT3 protein disrupts normal limb formation before birth and leads to the other serious birth defects associated with tetra-amelia syndrome.
Cytogenetic Location: 17q21
Molecular Location on chromosome 17: base pairs 46,762,505 to 46,818,759
The WNT3 gene is located on the long (q) arm of chromosome 17 at position 21.
More precisely, the WNT3 gene is located from base pair 46,762,505 to base pair 46,818,759 on chromosome 17.
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 WNT3 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.
amelia ; amino acid ; anterior ; axis ; cell ; embryo ; embryonic ; gene ; genitalia ; mutation ; nervous system ; oncogene ; posterior ; protein ; proto-oncogene ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/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.