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FREM1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

FREM1 gene

The FREM1 gene provides instructions for creating a protein essential for the formation and organization of basement membranes, which support and separate cells in various tissues.

Normal Function

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.

Health Conditions Related to Genetic Changes

Manitoba oculotrichoanal syndrome

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.

Coloboma

MedlinePlus Genetics provides information about Coloboma.

Congenital anomalies of kidney and urinary tract

MedlinePlus Genetics provides information about Congenital anomalies of kidney and urinary tract.

Other disorders

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.

Other Names for This Gene

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

Genomic Location

The FREM1 gene is found on chromosome 9.

Frequently Asked Questions

Key concerns include ocular anomalies (coloboma, cataracts), hair abnormalities, anal malformations that may require surgical correction, and renal or urinary tract anomalies. Regular ophthalmology exams, renal ultrasounds, and developmental assessments are recommended to catch complications early.
t present, there is no therapy that directly restores FREM1 protein function. Management focuses on correcting structural abnormalities (e.g., surgical repair of anal defects, vision correction) and supportive care. Research into gene‑replacement or protein‑stabilizing approaches is ongoing but not yet clinically available.
Diagnosis is confirmed by detecting pathogenic variants in the FREM1 gene, typically through clinical exome sequencing or a targeted FREM1 analysis. Deletions, nonsense, or frameshift mutations that truncate the protein are the most common findings. The genetic report should specify the exact change and its predicted effect on protein function.
Yes. If a specific FREM1 mutation has been identified in a parent or previous child, targeted prenatal testing (chorionic villus sampling or amniocentesis) can look for that variant. Non‑invasive prenatal testing (NIPT) currently does not reliably detect single‑gene changes, so invasive testing is required for definitive results.
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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