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WNT5A gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

WNT5A gene

The WNT5A gene provides instructions for making a protein essential for chemical signaling pathways that regulate embryonic development and cell interaction.

Normal Function

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.

Health Conditions Related to Genetic Changes

Robinow syndrome

At least six 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.

Most of the known mutations change 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. The resulting impairment of Wnt signaling pathways disrupts the development of many organs and tissues, leading to the features of Robinow syndrome.

Other Names for This Gene

  • hWNT5A
  • wingless-type MMTV integration site family member 5A
  • wingless-type MMTV integration site family, member 5A
  • WNT-5A protein

Frequently Asked Questions

Robinow syndrome caused by WNT5A mutations is inherited in an autosomal dominant pattern. This means that if one parent has the condition, there is a 50% chance with each pregnancy that their child will inherit the altered gene and develop the syndrome. Only one copy of the altered gene is sufficient to cause the disorder.
The WNT5A gene provides instructions for a protein crucial in chemical signaling pathways that regulate cell movement and attachment during early development. Mutations in this gene alter the protein's structure, disrupting its ability to interact with other proteins in these pathways. This impairment of Wnt signaling pathways interferes with the normal development of many organs and tissues, particularly the bones, leading to the characteristic features of Robinow syndrome.
Robinow syndrome, when caused by a WNT5A gene mutation, typically presents with distinctive facial features such as a broad forehead, widely spaced eyes, and a small nose. Other common features include short stature, underdeveloped limbs (especially forearms and calves), and abnormalities of the spine and ribs. Heart and genitourinary problems can also occur.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.