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FRAS1

FRAS1

Reviewed June 2014

What is the official name of the FRAS1 gene?

The official name of this gene is “Fraser syndrome 1.”

FRAS1 is the gene's official symbol. The FRAS1 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 FRAS1 gene?

The FRAS1 gene provides instructions for making a protein that is part of a group of proteins called 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 FRAS/FREM complex is particularly important during development before birth. One of its roles is to anchor the top layer of skin by connecting the basement membrane of the top layer to the layer of skin below. The FRAS/FREM complex is also involved in the proper development of certain other organs and tissues, including the kidneys, although the mechanism is unclear.

How are changes in the FRAS1 gene related to health conditions?

Fraser syndrome - caused by mutations in the FRAS1 gene

At least 24 mutations in the FRAS1 gene cause a condition called Fraser syndrome; FRAS1 gene mutations account for about half of cases of this condition. Fraser syndrome 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), and abnormalities of the kidneys and other organs and tissues.

Most mutations in the FRAS1 gene involved in Fraser syndrome lead to production of an abnormal protein with little or no function. The abnormal protein is likely broken down quickly, preventing formation of the FRAS/FREM complex. Lack of the FRAS/FREM complex in the basement membrane of the skin leads to detachment of the top layer, causing blisters to form during development. These blisters likely prevent the proper formation of certain structures before birth, leading to cryptophthalmos and cutaneous syndactyly. It is unknown how lack of the FRAS/FREM complex leads to kidney abnormalities and other problems in Fraser syndrome.

other disorders - associated with the FRAS1 gene

Mutations in the FRAS1 gene have also been found in people with abnormalities of the kidneys and urinary tract but no other signs and symptoms of Fraser syndrome (described above). Such abnormalities are grouped together as congenital anomalies of the kidney and urinary tract (CAKUT). A common abnormality in people with FRAS1 gene mutations is the absence of one of the kidneys (a condition called renal agenesis). The FRAS1 gene mutations involved in CAKUT typically change single protein building blocks (amino acids) in the FRAS1 protein. Researchers speculate that the effects of these mutations are milder than those of mutations that cause Fraser syndrome; some FRAS1 protein function may still remain. How these gene mutations affect the FRAS/FREM complex or lead to renal agenesis and other CAKUT is unknown.

Where is the FRAS1 gene located?

Cytogenetic Location: 4q21.21

Molecular Location on chromosome 4: base pairs 78,056,967 to 78,544,268

The FRAS1 gene is located on the long (q) arm of chromosome 4 at position 21.21.

The FRAS1 gene is located on the long (q) arm of chromosome 4 at position 21.21.

More precisely, the FRAS1 gene is located from base pair 78,056,967 to base pair 78,544,268 on chromosome 4.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about FRAS1?

You and your healthcare professional may find the following resources about FRAS1 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 FRAS1 gene or gene products?

  • extracellular matrix protein FRAS1
  • FLJ14927
  • FLJ22031
  • KIAA1500

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 FRAS1?

acids ; agenesis ; basement membrane ; basement membranes ; congenital ; cutaneous ; extracellular ; extracellular matrix ; gene ; kidney ; protein ; renal ; syndactyly ; syndrome

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

See also Understanding Medical Terminology.

References (7 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.

 
Reviewed: June 2014
Published: July 28, 2014