Gene Detail


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Gene Symbol UBA1
Synonyms A1S9 | A1S9T | A1ST | AMCX1 | CFAP124 | GXP1 | POC20 | SMAX2 | UBA1A | UBE1 | UBE1X | VEXAS
Gene Description UBA1, ubiquitin like modifier activating enzyme 1, plays a central role in protein homeostasis via activation and transfer of ubiquitin, thereby playing a role in several cellular processes, including cell cycle regulation (PMID: 26432019), cellular DNA damage response (PMID: 22456334, PMID: 30456359), and regulation of cellular autophagy (PMID: 23873149). Mutations in UBA1 have been identified in patients with myelodysplastic syndrome or chronic myelomonocytic leukemia with systemic inflammatory and autoimmune diseases (PMID: 34344988).
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