UBA5 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human UBA5 wild-type allele is located in the vicinity of 3q22.1 and is approximately 25 kb in length. This allele, which encodes ubiquitin-like modifier-activating enzyme 5 protein, plays a role in the modification of proteins with ubiquitin-fold modifier-1 (ufmylation). Mutations of the gene are associated with developmental and epileptic encephalopathy 44 and autosomal recessive spinocerebellar ataxia 24.

**Synonyms:** - DEE44 - EIEE44 - FLJ23251 - SCAR24 - THIFP1 - UBA5, Ubiquitin-Activating Enzyme E1 Homolog (Yeast) Gene - UBA5, Ubiquitin-Activating Enzyme E1 Homolog Gene - UBE1DC1 - Ubiquitin Like Modifier Activating Enzyme 5 wt Allele - Ubiquitin-Activating Enzyme E1 Domain-Containing 1 Gene - Ubiquitin-Activating Enzyme E1-Domain Containing 1 Gene - Ubiquitin-Like Modifier Activating Enzyme 5 Gene