Deoxyribonuclease 2 beta
Deoxyribonuclease 2 beta (DNase 2 beta), also known as DNASE2B, is an enzyme that in humans is encoded by the DNASE2B gene. This enzyme is part of the deoxyribonuclease family, which is responsible for the degradation of DNA molecules.
Function[edit | edit source]
DNase 2 beta is an endonuclease that specifically degrades DNA during apoptosis (programmed cell death). It is found in the lysosome, an organelle in the cell that breaks down waste materials and cellular debris. The enzyme is involved in the digestion of DNA from dying cells, preventing the induction of an immune response against self-DNA.
Clinical significance[edit | edit source]
Mutations in the DNASE2B gene have been associated with various diseases. For example, a deficiency in DNase 2 beta can lead to a rare genetic disorder known as Haim-Munk syndrome. This condition is characterized by palmoplantar keratoderma, severe periodontitis, arachnodactyly, and acroosteolysis.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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