UBA1 by VEXAS syndrome

The Ubiquitin-like modifier activating enzyme 1 (UBA1) is encoded by the X-linked UBA1 gene.

UBA1 is an ubiquitin activating enzyme that initiates the activation and conjugation of ubiquitin-like proteins. Modification of proteins with ubiquitin or ubiquitin-like proteins controls many signaling networks and requires an ubiquitin activating enzyme, an ubiquitin conjugating enzyme, and an ubiquitin protein ligase.

Vacuoles, E1 enzyme, X linked, autoinflammatory, somatic (VEXAS) syndrome is a rare adult-onset inflammatory disease that primarily affects males and is caused by somatic UBA1 variants. VEXAS syndrome is marked by inflammation, cytopenia’s and intracellular vacuoles in hematopoietic precursors.