ATG7

Chr 3

autophagy related 7

Also known as: APG7-LIKE, APG7L, GSA7, SCAR31

NCBI Gene: 10533 ENSG00000197548 UniProt: O95352

ATG7 encodes an E1-like activating enzyme essential for autophagy, activating ATG12 and ATG8 family proteins for conjugation reactions required for autophagosome formation and cytoplasm-to-vacuole transport. Mutations cause spinocerebellar ataxia, autosomal recessive 31, which follows autosomal recessive inheritance. The gene is not highly constrained against loss-of-function variants and plays critical roles in axonal homeostasis and mitochondrial quality control.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpinocerebellar ataxia, autosomal recessive, 31

Clinical highlights

Gene-disease validity (ClinGen)

spinocerebellar ataxia, autosomal recessive 31 · ARStrongappropriate for clinical testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

446

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.94

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)