ATG3

Chr 3

autophagy related 3

Also known as: APG3, APG3-LIKE, APG3L, PC3-96, hApg3

NCBI Gene: 64422 ENSG00000144848 UniProt: Q9NT62 OMIM: 609606

This gene encodes an E2 conjugating enzyme that catalyzes the lipidation of ATG8-like proteins to phosphatidylethanolamine in membranes, a critical step in autophagosome formation during autophagy. Mutations cause ATG3-related developmental and epileptic encephalopathy, characterized by early-onset seizures, severe developmental delay, and neurodegeneration with autosomal recessive inheritance. The gene shows tolerance to loss-of-function variants in the general population, suggesting that pathogenic variants likely have specific functional consequences.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

OMIM ResearchGenerating clinical summary…

Active trials

101

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.72

LOEUF

Mechanism· predicted