Ontology highlight
ABSTRACT:
SUBMITTER: Mauney CH
PROVIDER: S-EPMC6117824 | biostudies-literature | 2018 May
REPOSITORIES: biostudies-literature
Mauney Christopher H CH Hollis Thomas T
Autoimmunity 20180327 3
Sterile alpha motif and histidine-aspartic acid domain-containing protein 1 (SAMHD1) is a deoxynucleotide triphosphate (dNTP) hydrolase that plays an important role in the homeostatic balance of cellular dNTPs. Its emerging role as an effector of innate immunity is affirmed by mutations in the SAMHD1 gene that cause the severe autoimmune disease, Aicardi-Goutieres syndrome (AGS) and that are linked to cancer. Additionally, SAMHD1 functions as a restriction factor for retroviruses, such as HIV. H ...[more]