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Article

SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.

Human mutation - 1 Jul 2012

Goncalves Adriana, Karayel Evren, Rice Gillian I, Bennett Keiryn L, Crow Yanick J, Superti-Furga Giulio, Bürckstümmer Tilmann

Abstract excerpt

Aicardi-Goutières syndrome (AGS) is a rare inherited autoimmune disease caused by mutations in genes encoding the RNase H2 subunits A, B, and C; the DNase three prime repair exonuclease 1 (TREX1); and sterile alpha motif (SAM) domain and HD domain-containing protein 1 (SAMHD1). Using unbiased affinity purification coupled to protein mass spectrometry, we identify SAMHD1 as a nucleic-acid-binding protein...

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Source

Identifiers

PMID: 22461318
DOI: 10.1002/humu.22087

Genes

SAMHD1
TREX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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