SAMHD1 : SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
Description
The SAMHD1 gene encodes a protein that plays a crucial role in regulating cellular DNA levels. This protein, also known as SAMHD1, acts as a ‘gatekeeper‘ by controlling the amount of deoxyribonucleotide triphosphates (dNTPs), the building blocks of DNA, available for DNA synthesis. SAMHD1‘s primary function is to restrict dNTP levels within cells, preventing uncontrolled DNA replication and protecting against harmful mutations. This is particularly important for maintaining genome stability and preventing the spread of viruses like HIV.
Associated Diseases
- Aicardi-Goutières syndrome (AGS): A rare, genetic disorder characterized by severe neurological dysfunction, microcephaly, and inflammation of the brain.
- Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO): A neurodegenerative disorder marked by brain swelling, seizures, and vision loss.
- HIV infection: Mutations in the SAMHD1 gene have been linked to increased susceptibility to HIV infection.
- Cancer: Dysregulation of SAMHD1 expression has been implicated in the development of certain cancers, particularly hematological malignancies.
Did you know?
SAMHD1 has been shown to be a powerful antiviral protein, inhibiting the replication of a wide range of viruses, including HIV, herpesviruses, and retroviruses.
