ATG5

Chr 6

autophagy related 5

Also known as: APG5, APG5-LIKE, APG5L, ASP, SCAR25, hAPG5

NCBI Gene: 9474 ENSG00000057663 UniProt: Q9H1Y0

ATG5 encodes a protein that functions as an E1-like activating enzyme in autophagy, essential for autophagic vesicle formation, mitochondrial quality control, lymphocyte development, and axon maintenance. Mutations cause autosomal recessive spinocerebellar ataxia (SCAR25). The gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.30), indicating that complete loss of ATG5 function is likely detrimental.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpinocerebellar ataxia, autosomal recessive, 25

Clinical highlights

Gene-disease validity (ClinGen)

spinocerebellar ataxia, autosomal recessive 25 · ARLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

745

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.29

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)