SAMHD1 - Gene Detail

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Gene Symbol SAMHD1
Synonyms CHBL2 | DCIP | HDDC1 | hSAMHD1 | MOP-5 | SBBI88
Gene Description SAMHD1, SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1, is involved in regulating the intracellular deoxynucleoside triphosphate (dNTP) pool (PMID: 23858451), and plays a role in innate immune response (PMID: 37328105, PMID: 29610295), telomere maintenance (PMID: 36934410), DNA repair (PMID: 28834754), and DNA replication (PMID: 29670289). SAMHD1 mutations have been identified in mantle cell lymphoma (PMID: 34976810, PMID: 33979727), colon cancer (PMID: 27071091), chronic lymphocytic leukemia (PMID: 24335234), and T-cell prolymphocytic leukemia (PMID: 29352181), and increased expression and mutation of SAMHD1 may play a role in chemotherapeutic resistance (PMID: 33979727, PMID: 35803902).
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