Keywords - Aicardi-Goutieres syndrome (KW-0948)
- DefinitionProtein which, if defective, causes Aicardi-Goutieres syndrome, a genetic disorder that is phenotypically similar to in utero viral infection. The disease is characterized by severe neurological dysfunction in infancy, leading to progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation and often death in early childhood.
- Synonyms
- Category
- Gene Ontology (GO)
- Ancestors
- GraphicalAicardi-Goutieres syndrome
Related UniProtKB entries
Browse all 8 entries- Interferon-induced helicase C domain-containing protein 1 · Gene: IFIH1 (MDA5, RH116) · Homo sapiens (Human) · EC:3.6.4.13 · 1025 amino acids · Evidence at protein level · Annotation score: 5/5
- Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 · Gene: SAMHD1 (MOP5) · Homo sapiens (Human) · EC:3.1.5.- · 626 amino acids · Evidence at protein level · Annotation score: 5/5
- Ribonuclease H2 subunit C · Gene: RNASEH2C (AYP1) · Homo sapiens (Human) · 164 amino acids · Evidence at protein level · Annotation score: 5/5
- Ribonuclease H2 subunit A · Gene: RNASEH2A (RNASEHI, RNHIA) · Homo sapiens (Human) · EC:3.1.26.4 · 299 amino acids · Evidence at protein level · Annotation score: 5/5
- Double-stranded RNA-specific adenosine deaminase · Gene: ADAR (ADAR1, DSRAD, G1P1, IFI4) · Homo sapiens (Human) · EC:3.5.4.37 · 1226 amino acids · Evidence at protein level · Annotation score: 5/5
- U7 snRNA-associated Sm-like protein LSm11 · Gene: LSM11 · Homo sapiens (Human) · 360 amino acids · Evidence at protein level · Annotation score: 5/5
- Ribonuclease H2 subunit B · Gene: RNASEH2B (DLEU8) · Homo sapiens (Human) · 312 amino acids · Evidence at protein level · Annotation score: 5/5
- Three-prime repair exonuclease 1 · Gene: TREX1 · Homo sapiens (Human) · EC:3.1.11.2 · 314 amino acids · Evidence at protein level · Annotation score: 5/5