ITCH wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ITCH wild-type allele is located in the vicinity of 20q11.22 and is approximately 178 kb in length. This allele, which encodes E3 ubiquitin-protein ligase Itchy homolog protein, plays a role in the regulation of ubiquitinated protein degradation of inflammatory pathway proteins. Mutation of the gene is associated with multisystem autoimmune disease with facial dysmorphism (ADMFD).

**Synonyms:** - ADMFD - AIF4 - AIP4 - Itchy (Mouse Homolog) E3 Ubiquitin Protein Ligase Gene - Itchy E3 Ubiquitin Protein Ligase Homolog (Mouse) Gene - Itchy E3 Ubiquitin Protein Ligase Homolog Gene - Itchy E3 Ubiquitin Protein Ligase wt Allele - Itchy E3 Ubiquitin Protein Ligase, Mouse, Homolog of Gene - NAPP1