SAMHD1 gene

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

The SAMHD1 gene provides instructions for making a protein whose function is not well understood. The SAMHD1 protein is believed to be involved in the immune system, including the inflammatory process and response to viral infections.

At least 16 mutations in the SAMHD1 gene have been identified in people with Aicardi-Goutieres syndrome. Mutations in this gene likely result in a SAMHD1 protein that does not function properly. It is not known how this protein dysfunction leads to immune system abnormalities, inflammatory damage to the brain and skin, and other characteristics of Aicardi-Goutieres syndrome.

Cytogenetic Location: 20q11.23, which is the long (q) arm of chromosome 20 at position 11.23

Molecular Location: base pairs 36,890,882 to 36,951,843 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20q11.23, which is the long (q) arm of chromosome 20 at position 11.23
  • AGS5
  • DCIP
  • dendritic cell-derived IFNG-induced protein
  • HDDC1
  • Mg11
  • monocyte protein 5
  • MOP-5
  • SAM domain and HD domain 1
  • SAM domain and HD domain-containing protein 1
  • SAMH1_HUMAN
  • SBBI88