UBA1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human UBA1 wild-type allele is located in the vicinity of Xp11.3 and is approximately 24 kb in length. This allele, which encodes ubiquitin-like modifier-activating enzyme 1 protein, plays a role in the initial step of ubiquitination. Mutation of the gene is associated with X-linked, infantile spinal muscular atrophy 2 and somatic VEXAS syndrome.

**Synonyms:** - A1S9 - A1S9T - A1S9T and BN75 Temperature Sensitivity Complementing Gene - A1ST - AMCX1 - BN75 Temperature Sensitivity Complementing Gene - CFAP124 - GXP1 - POC20 - POC20 Centriolar Protein Homolog (Chlamydomonas) Gene - SMAX2 - Temperature-Sensitive Mutation, Mouse, Complementation of Gene - UBA1, Ubiquitin-Activating Enzyme E1 Homolog (Yeast) Gene - UBA1, Ubiquitin-Activating Enzyme E1 Homolog A Gene - UBA1A - UBE1 - UBE1X - Ubiquitin Like Modifier Activating Enzyme 1 wt Allele - Ubiquitin-Activating Enzyme E1 (A1S9T and BN75 Temperature Sensitivity Complementing) Gene - VEXAS