USP18 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human USP18 wild-type allele is located in the vicinity of 22q11.2 and is approximately 27 kb in length. This allele, which encodes Ubl carboxyl-terminal hydrolase 18 protein, is involved in the cleavage of proteins conjugated with ubiquitin-like protein ISG15. Mutation of the gene is associated with pseudo-TORCH syndrome 2.

**Synonyms:** - ISG43 - Interferon-Stimulated Gene, 43-kD Gene - PTORCH2 - UBP43 - Ubiquitin Specific Peptidase 18 wt Allele - Ubiquitin-Specific Protease, 43-kD Gene