FAAP24 Gene

Last updated on: 13.05.2022

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Definition
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The FAAP24 gene (FAAP24 stands for "Fanconi Anemia Core Complex Associated Protein 24") encodes a protein that is a component of the Fanconi anemia (FA) core complex (see OMIM 227650). This complex plays a critical role in the DNA damage response.

The encoded protein plays a role in DNA repair by binding the FA core complex to damaged DNA. It regulates FANCD2 monoubiquitination upon DNA damage. Mutations in the encoding gene cause chromosomal instability.

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Last updated on: 13.05.2022

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