Genetics and 3-M syndrome

Genetic Changes

Mutations in the CUL7 gene cause 3-M syndrome . The CUL7 gene provides instructions for making a protein called cullin-7. This protein plays a role in the cell machinery that breaks down (degrades) unwanted proteins, called the ubiquitin-proteasome system.

Cullin-7 helps to assemble a complex known as an E3 ubiquitin ligase. This complex tags damaged and excess proteins with molecules called ubiquitin. Ubiquitin serves as a signal to specialized cell structures known as proteasomes, which attach (bind) to the tagged proteins and degrade them. The ubiquitin-proteasome system acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins. This system also regulates the level of proteins involved in several critical cell activities such as the timing of cell division and growth.

Mutations in the CUL7 gene that cause 3-M syndrome disrupt the ability of the cullin-7 protein to bring together the components of the E3 ubiquitin ligase complex, interfering with the process of tagging other proteins with ubiquitin (ubiquitination). It is not known how impaired ubiquitination results in the specific signs and symptoms of 3-M syndrome .

Source: GHR (NLM/NIH)1

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Back to: « 3-M syndrome

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Inheritance Pattern

This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Source: GHR (NLM/NIH)2

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Learn more about the gene associated with 3-M syndrome

  • CUL7

Source: GHR (NLM/NIH)3

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ 3-m-syndrome
  2. ibid.
  3. ibid.

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