機能Putative nuclease involved in innate immune response by acting as a negative regulator of the cell-intrinsic antiviral response. May play a role in mediating proinflammatory responses to TNF-alpha signaling.
組織特異性Expressed in heart, skeletal muscle, spleen, liver, small intestine, placenta, lung and peripheral blood leukocytes. No expression is seen in brain and thymus.
関連疾患Defects in SAMHD1 are the cause of Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]. A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.
配列類似性Belongs to the SAMHD1 family. Contains 1 HD domain. Contains 1 SAM (sterile alpha motif) domain.
ab96768, at 1/100, staining paraffin-embedded OVCA by Immunohistochemistry.
Anti-SAMHD1 antibody (ab96768) 使用論文
This product has been referenced in:
Clifford R et al. SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage. Blood123:1021-31 (2014).
Read more (PubMed: 24335234) »
Kim B et al. Tight Interplay Among SAMHD1 Level, Cellular dNTP Levels and HIV-1 Proviral DNA Synthesis Kinetics in Human Primary Monocyte-Derived Macrophages. J Biol Chem : (2012).
Read more (PubMed: 22589553) »