ubiquitin-protein ligase E3A isoform 1 [Homo sapiens]

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Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey. [Congenit Anom (Kyoto). 2024]
Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.
Bruns R, Liaqat K, Nasir A, Treat K, Murthy VS, Mantcheva L, Torres W, Conboy E, Vetrini F. Congenit Anom (Kyoto). 2024 May; 64(3):155-160. Epub 2024 Mar 23.
Ubiquitin-protein ligase E3A (UBE3A) mediation of viral infection and human diseases. [Virus Res. 2023]
Ubiquitin-protein ligase E3A (UBE3A) mediation of viral infection and human diseases.
Chaudhary P, Proulx J, Park IW. Virus Res. 2023 Oct 2; 335:199191. Epub 2023 Aug 4.
The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons. [Stem Cell Reports. 2023]
The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons.
Elamin M, Dumarchey A, Stoddard C, Robinson TM, Cowie C, Gorka D, Chamberlain SJ, Levine ES. Stem Cell Reports. 2023 Apr 11; 18(4):884-898. Epub 2023 Mar 9.

RefSeq genomic sequence
See the genomic reference sequence for the UBE3A gene (NG_009268.1).
RefSeq mRNA
See reference mRNA sequence for the UBE3A gene (NM_001354508.2).
RefSeq protein isoforms
See 68 reference sequence protein isoforms for the UBE3A gene.

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Protein