ubiquitin-like modifier-activating enzyme 5 isoform 3 [Homo sapiens]

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Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy. [Neuropediatrics. 2021]
Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy.
Al-Saady ML, Kaiser CS, Wakasuqui F, Korenke GC, Waisfisz Q, Polstra A, Pouwels PJW, Bugiani M, van der Knaap MS, Lunsing RJ, et al. Neuropediatrics. 2021 Dec; 52(6):489-494. Epub 2021 Apr 14.
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay. [Eur J Med Genet. 2019]
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.
Low KJ, Baptista J, Babiker M, Caswell R, King C, Ellard S, Scurr I. Eur J Med Genet. 2019 Feb; 62(2):97-102. Epub 2018 Jun 12.
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst. [Hum Mutat. 2018]
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.
Mignon-Ravix C, Milh M, Kaiser CS, Daniel J, Riccardi F, Cacciagli P, Nagara M, Busa T, Liebau E, Villard L. Hum Mutat. 2018 Jul; 39(7):934-938. Epub 2018 May 3.

RefSeq mRNA
See reference mRNA sequence for the UBA5 gene (NM_001321238.2).
RefSeq protein isoforms
See 5 reference sequence protein isoforms for the UBA5 gene.

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