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Article

Abundance and localization of human UBE3A protein isoforms.

Human molecular genetics - 4 Nov 2020

Sirois Carissa L, Bloom Judy E, Fink James J, Gorka Dea, Keller Steffen, Germain Noelle D, Levine Eric S, Chamberlain Stormy J

Abstract excerpt

Loss of UBE3A expression, a gene regulated by genomic imprinting, causes Angelman syndrome (AS), a rare neurodevelopmental disorder. The UBE3A gene encodes an E3 ubiquitin ligase with three known protein isoforms in humans. Studies in mouse suggest that the human isoforms may have differences in localization and neuronal function. A recent case study reported mild AS phenotypes in individuals lacking one specific...

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Identifiers

PMID: 32833011
DOI: 10.1093/hmg/ddaa191
PMCID: PMC7645711

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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