SAMHD1 wt Allele

**Semantic type:** Gene or Genome

**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.

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