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FREM1

FREM1

Reviewed May 2011

What is the official name of the FREM1 gene?

The official name of this gene is “FRAS1 related extracellular matrix 1.”

FREM1 is the gene's official symbol. The FREM1 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 FREM1 gene?

The FREM1 gene provides instructions for making a protein that is involved in the formation and organization of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues.

The FREM1 protein is one of a group of proteins, including proteins called FRAS1 and FREM2, that interact during embryonic development as components of basement membranes. Basement membranes help anchor layers of cells lining the surfaces and cavities of the body (epithelial cells) to other embryonic tissues, including those that give rise to connective tissues (such as skin and cartilage) and the kidneys.

How are changes in the FREM1 gene related to health conditions?

Manitoba oculotrichoanal syndrome - caused by mutations in the FREM1 gene

At least two FREM1 gene mutations have been identified in people with Manitoba oculotrichoanal syndrome. This condition involves several characteristic physical features, particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal). The mutations delete genetic material from the FREM1 gene or result in a premature stop signal that leads to an abnormally short FREM1 protein, and are believed to result in a nonfunctional protein.

Absence of functional FREM1 protein interferes with its role in embryonic basement membrane development and may also affect the location, stability, or function of the FRAS1 and FREM2 proteins. The features of Manitoba oculotrichoanal syndrome may result from the failure of neighboring embryonic tissues to fuse properly due to impairment of the basement membranes' anchoring function.

other disorders - caused by mutations in the FREM1 gene

At least three FREM1 gene mutations have been identified in people with a disorder called bifid nose, renal agenesis, and anorectal malformations syndrome, sometimes called BNAR. These mutations change single protein building blocks (amino acids) in the FREM1 protein or result in an abnormally shortened protein.

The mutations that cause BNAR likely disrupt the role of the FREM1 protein in the embryonic basement membranes of particular tissues, resulting in the cleft nasal cartilage (bifid nose), missing kidneys (renal agenesis), narrowed or misplaced anal opening (anorectal malformations), and other features characteristic of this disorder. Researchers suggest that BNAR and Manitoba oculotrichoanal syndrome, with their overlapping features, may be considered part of a single disorder spectrum.

Where is the FREM1 gene located?

Cytogenetic Location: 9p22.3

Molecular Location on chromosome 9: base pairs 14,734,665 to 14,910,994

The FREM1 gene is located on the short (p) arm of chromosome 9 at position 22.3.

The FREM1 gene is located on the short (p) arm of chromosome 9 at position 22.3.

More precisely, the FREM1 gene is located from base pair 14,734,665 to base pair 14,910,994 on chromosome 9.

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

Where can I find additional information about FREM1?

You and your healthcare professional may find the following resources about FREM1 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 FREM1 gene or gene products?

  • BNAR
  • C9orf143
  • C9orf145
  • C9orf154
  • extracellular matrix protein QBRICK
  • FLJ25461
  • FRAS1-related extracellular matrix protein 1
  • FREM1_HUMAN
  • TILRR

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 FREM1?

acids ; agenesis ; anus ; basement membrane ; basement membranes ; bifid ; cartilage ; embryonic ; epithelial ; extracellular ; extracellular matrix ; gene ; protein ; renal ; spectrum ; syndrome

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

See also Understanding Medical Terminology.

References (5 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: May 2011
Published: December 16, 2014