Loss of function mutation

Last updated on: 17.05.2023

Dieser Artikel auf Deutsch

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

DefinitionThis section has been translated automatically.

A loss-of-function mutation results in a functionless gene product. For example, an enzyme that has been produced can no longer perform its enzymatic activity. Sickle cell anemia or cystic fibrosis are examples of loss-of-function mutations.

General informationThis section has been translated automatically.

A mutation is a permanent change in the genetic material. The following types of mutation are distinguished: gene mutation, chromosome mutation, genome mutation. Mutations can occur spontaneously e.g. during DNA replication or meiosis. Mutation can also be induced e.g. by mutagens. Induced mutation: Factors outside the cell (mutagens), can also cause mutations. These are, for example, high-energy radiation, such as X-rays or UV radiation, as well as certain chemical compounds or special viruses. The following inheritance patterns are known:

  • Somatic mutation (confined to body cells only).
  • Germline mutations (the mutation is passed on to offspring).

Mutations are divided into the following forms:

Last updated on: 17.05.2023