SAMHD1 wt Allele

Preferred Label : SAMHD1 wt Allele;

NCIt synonyms : DCIP; Aicardi-Goutieres Syndrome 5 Gene; MOP-5; HD Domain Containing 1 Gene; RP1-132F21.1; Monocyte Protein 5 Gene; HDDC1; AGS5; SBBI88; Mg11; SAM Domain and HD Domain 1 wt Allele;

NCIt definition : Human SAMHD1 wild-type allele is located within 20pter-q12 and is approximately 62 kb in length. This allele, which encodes SAM domain and HD domain-containing protein 1, plays a role in the immune response and signaling pathways. Mutation of the gene is associated with Aicardi-Goutieres syndrome type 5.;

GenBank Accession Number : AF228421;

Details

Origin ID

C98204;

UMLS CUI

C3273873;

Automatic exact mappings (from CISMeF team)
- Aicardi-goutieres syndrome 5 [OMIM Phenotype]
- Neuronal pas domain protein 1 [OMIM gene]
- SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 [ORDO Gene]
- Sam domain- and hd domain-containing protein 1 [OMIM gene]
OMIM relation
- Sam domain- and hd domain-containing protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20pter-q12 [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Immune Response Process [NCIt concept]
- Immunity [NCIt concept]

Keyword's position in hierarchy(ies) :

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