UBE1
MIM.314370 Xp11.23
Modification of proteins with ubiquitin (UBB) (MIM.191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3).
UBE1 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins.
Pathology
infantile X-linked spinal muscular atrophy (MIM.301830) (18179898)
- X-linked infantile spinal muscular atrophy (XL-SMA) is an X-linked disorder presenting with the clinical features hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells and infantile death.
References
Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am J Hum Genet. 2008 Jan;82(1):188-93.PMID: 18179898