lunes, 28 de septiembre de 2015

WNT5A - wingless-type MMTV integration site family, member 5A - Genetics Home Reference

WNT5A - wingless-type MMTV integration site family, member 5A - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the WNT5A gene?

The official name of this gene is “wingless-type MMTV integration site family, member 5A.”
WNT5A is the gene's official symbol. The WNT5A 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 WNT5A gene?

The WNT5A gene is part of a large family of WNT genes, which play critical roles in development starting before birth. These genes provide instructions for making proteins that participate in chemical signaling pathways in the body. WNT signaling controls the activity of certain genes and regulates the interactions between cells during embryonic development.
The protein produced from the WNT5A gene is part of chemical signaling pathways that control the movement of cells (cell migration) and attachment of cells to one another (cell adhesion) during early development. Studies suggest that the WNT5A protein plays important roles in the normal development of many parts of the body, including the brain, skeleton, blood cells, and fatty (adipose) tissue.

Does the WNT5A gene share characteristics with other genes?

The WNT5A 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? in the Handbook.

How are changes in the WNT5A gene related to health conditions?

Robinow syndrome - caused by mutations in the WNT5A gene
At least four mutations in the WNT5A gene have been found to cause the autosomal dominant form of Robinow syndrome, a condition that affects the development of many parts of the body, particularly the bones. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. Each of the known mutations changes a single protein building block (amino acid) in the WNT5A protein. These mutations alter the structure of the protein, which likely affects its interactions with other proteins involved in WNT signaling. Impairment of these signaling pathways disrupts the normal development of many organs and tissues, leading to the features of Robinow syndrome.

Where is the WNT5A gene located?

Cytogenetic Location: 3p21-p14
Molecular Location on chromosome 3: base pairs 55,465,714 to 55,505,260
The WNT5A gene is located on the short (p) arm of chromosome 3 between positions 21 and 14.
The WNT5A gene is located on the short (p) arm of chromosome 3 between positions 21 and 14.
More precisely, the WNT5A gene is located from base pair 55,465,714 to base pair 55,505,260 on chromosome 3.

Where can I find additional information about WNT5A?

You and your healthcare professional may find the following resources about WNT5A 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 WNT5A gene or gene products?

  • hWNT5A
  • WNT-5A protein

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 WNT5A?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (6 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

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