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FRAS1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

FRAS1 gene

The FRAS1 gene provides instructions for a protein that helps anchor skin layers and supports the development of organs like the kidneys.

Normal Function

The FRAS1 gene provides instructions for making a protein that is part of the FRAS/FREM complex. This complex is found in basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The complex is particularly important during development before birth, where it anchors the top layer of skin by connecting it to the layer below. It is also involved in the development of other organs, including the kidneys.

Health Conditions Related to Genetic Changes

Fraser syndrome

At least 24 mutations in the FRAS1 gene cause Fraser syndrome, accounting for about half of all cases. This condition affects development before birth and is characterized by:

  • Eyes that are completely covered by skin (cryptophthalmos)
  • Fusion of the skin between the fingers and toes (cutaneous syndactyly)
  • Abnormalities of the kidneys and other organs

Mutations typically lead to an abnormal, nonfunctional protein, preventing the formation of the FRAS/FREM complex. This leads to the detachment of the top layer of skin and the formation of blisters during development, which likely prevents the proper formation of structures like the eyes and digits.

Congenital anomalies of kidney and urinary tract (CAKUT)

Mutations in the FRAS1 gene have been found in people with isolated abnormalities of the kidneys and urinary tract, such as the absence of one kidney (renal agenesis). These mutations typically change single amino acids and are thought to have a milder effect on protein function than those causing full Fraser syndrome.

Frequently Asked Questions

Fraser syndrome is a severe developmental disorder characterized by major features such as cryptophthalmos (eyes completely covered by skin), cutaneous syndactyly (webbing or fusion of fingers and/or toes), and abnormalities of the kidneys and urinary tract. Other features can include genital abnormalities, laryngeal defects, and skeletal anomalies.
Fraser syndrome is inherited in an autosomal recessive pattern. This means a child must inherit two copies of a mutated FRAS1 gene (one from each parent) to develop the condition. Parents who are carriers (have one mutated copy) typically do not show symptoms but have a 25% chance with each pregnancy of having an affected child.
Yes, mutations in the FRAS1 gene can cause isolated congenital anomalies of the kidney and urinary tract (CAKUT) without the full spectrum of Fraser syndrome features. These mutations are generally milder and may lead to conditions like renal agenesis (absence of one kidney) or other structural kidney defects.
Fraser syndrome is often suspected during prenatal ultrasound due to characteristic findings like cryptophthalmos, syndactyly, or kidney abnormalities. After birth, diagnosis is based on clinical examination and confirmed by genetic testing for mutations in the FRAS1 gene or other associated genes.
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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