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ECM1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ECM1 gene

The ECM1 gene provides instructions for making a protein essential for structural support in tissues and plays a key role in the development of skin cells and blood vessels.

Normal Function

The ECM1 gene provides instructions for making a protein that is found in most tissues within the extracellular matrix, an intricate lattice that forms in the space between cells and provides structural support. The ECM1 protein can attach (bind) to numerous structural proteins and is involved in the growth and maturation (differentiation) of cells, including skin cells called keratinocytes. The protein may also regulate the formation of blood vessels (angiogenesis).

Four different versions (isoforms) of the ECM1 protein are produced from the ECM1 gene. These isoforms vary in length and in the tissues where they are found. The most abundant and widespread version is known as ECM1a.

Health Conditions Related to Genetic Changes

Lipoid proteinosis

At least 55 mutations in the ECM1 gene have been found to cause lipoid proteinosis, a condition that results from numerous, small clumps (deposits) of proteins and other molecules that form in various tissues throughout the body. Affected individuals typically have a hoarse voice, skin abnormalities, and neurological and respiratory problems.

Typically, mutations that cause lipoid proteinosis occur in areas of the ECM1 gene known as exon 6 and exon 7. One mutation that deletes a single DNA building block (nucleotide) from exon 6 of the ECM1 gene (written 507delT) has been found in multiple individuals around the world. Another mutation that occurs in exon 7 of the gene is common in affected individuals in South Africa and results in a premature stop signal in the instructions for making the protein (written as Gln276Ter or Q276X). The ECM1 gene mutations that cause lipoid proteinosis result in the production of a nonfunctional protein or no protein at all.

A lack of functional ECM1 protein reduces binding between ECM1 and other proteins, leading to an unstable extracellular matrix. Without adequate support from the extracellular matrix, cells in the skin and other tissues are weakened. However, the cause of the deposits in skin and other tissues is not clear. The unstable extracellular matrix may cause neighboring cells to overproduce proteins and other materials. It is possible that, as these excess substances accumulate in tissues, they create the deposits characteristic of lipoid proteinosis.

Other Names for This Gene

  • secretory component p85
  • URBWD

Frequently Asked Questions

irway lesions can make intubation difficult. Anesthesiologists should be alerted to the diagnosis so they can plan for fiber‑optic or video‑laryngoscopic intubation, have smaller‑diameter tubes ready, and consider awake intubation techniques. Post‑operative monitoring for airway edema is essential, and a multidisciplinary team (ENT, pulmonology, genetics) should be involved in peri‑operative care.
The most common mutation in South African families with lipoid proteinosis is a nonsense change in exon 7 that creates a premature stop codon (often reported as c.826C>T, p.Arg276*). Targeted testing for this variant, together with sequencing of exons 6 and 7, captures the majority of cases in that population.
Lipoid proteinosis is inherited in an autosomal‑recessive pattern. Both parents must carry one altered copy of the ECM1 gene; each pregnancy has a 25 % chance of producing an affected child, a 50 % chance of a carrier, and a 25 % chance of a child with two normal copies. If only one parent is a carrier, the risk to offspring is essentially nil. Genetic counseling and carrier testing are recommended for family planning.
There is no cure, but symptomatic management can help. Low‑dose oral retinoids (e.g., acitretin) have been reported to reduce skin thickening in some patients. Speech therapy can improve voice quality, and regular dermatologic debridement of thickened lesions may prevent secondary infection. Ongoing research into enzyme‑replacement or gene‑editing therapies is experimental and not yet clinically available.
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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