Description
Product Characteristics:
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.Tissue specificity:Expressed in heart, skeletal muscle, spleen, liver, small intestine, placenta, lung and peripheral blood leukocytes. No expression is seen in brain and thymus.Involvement in disease:Defects in SAMHD1 are the cause of Aicardi-Goutieres syndrome type 5 (AGS5). 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.
Subcellular location: Nucleus
Synonyms: DCIP, Dendritic cell derived NG induced protein, Dendritic cell-derived NG-induced protein, HD domain containing 1, HDDC1, Mg11, Monocyte protein 5, MOP 5, MOP5, OTTHUMP00000030889, SAM domain and HD domain 1, SAM domain and HD domain containing protein 1, SAM domain and HD domain-containing protein 1, SAMH1_HUMAN, Samhd1, SBBI88.
Target Information: This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]