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FREM2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

FREM2 gene

The FREM2 gene provides instructions for a protein that regulates the formation of the FRAS/FREM complex, which is critical for skin and organ development.

Normal Function

The FREM2 gene provides instructions for making a protein that is part of the FRAS/FREM complex and regulates the complex's formation. This complex is found in basement membranes, which separate and support cells in various tissues. During development before birth, this complex anchors the top layer of skin to the layer below and is involved in the development of organs such as the kidneys.

Health Conditions Related to Genetic Changes

Fraser syndrome

Mutations in the FREM2 gene are responsible for a small percentage of cases of Fraser syndrome. Similar to mutations in the FRAS1 gene, these mutations result in an abnormal protein that prevents the FRAS/FREM complex from forming.

  • Developmental Impact: The lack of the complex leads to skin detachment and blistering during development. These blisters interfere with the proper formation of structures, leading to symptoms such as cryptophthalmos (eyes covered by skin) and cutaneous syndactyly (fused fingers or toes).

Congenital anomalies of kidney and urinary tract (CAKUT)

Mutations in the FREM2 gene have also been identified in individuals with isolated kidney and urinary tract abnormalities, without the other symptoms of Fraser syndrome. These mutations are thought to be milder, potentially allowing some protein function to remain, though the exact mechanism leading to conditions like renal agenesis remains unknown.

Frequently Asked Questions

Fraser syndrome involves multiple severe developmental issues, including skin blistering, eye abnormalities, fused digits, and kidney problems, often leading to significant health challenges. Isolated CAKUT (Congenital Anomalies of Kidney and Urinary Tract) due to FREM2 mutations typically presents only with kidney and urinary tract issues, without the widespread skin and limb involvement seen in Fraser syndrome. The mutations causing isolated CAKUT are thought to be milder, allowing some protein function to remain.
Diagnosis often begins with recognizing characteristic physical features at birth or prenatally through ultrasound, such as eyes covered by skin (cryptophthalmos), fused fingers or toes (cutaneous syndactyly), and kidney abnormalities. Genetic testing for FREM2 gene mutations can confirm the diagnosis.
Fraser syndrome is typically inherited in an autosomal recessive pattern, meaning both parents must carry a mutated FREM2 gene for their child to be affected. If one child has the condition, there's a 25% chance for each subsequent child to be affected. Genetic counseling is highly recommended for families to understand inheritance patterns, discuss carrier testing for parents and other family members, and explore prenatal diagnostic options for future pregnancies. The inheritance pattern for isolated CAKUT due to FREM2 mutations can vary, but often follows a similar recessive pattern or can be de novo (new mutation).
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.

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