GABARAPL1

Chr 12

GABA type A receptor associated protein like 1

Also known as: APG8-LIKE, APG8L, ATG8, ATG8B, ATG8L, GEC1

NCBI Gene: 23710 ENSG00000139112 UniProt: Q9H0R8 OMIM: 607420

The encoded protein facilitates autophagosome maturation and endoplasmic reticulum turnover during cellular stress, while also regulating cell-surface trafficking of certain receptors. Mutations cause autosomal recessive intellectual disability with seizures and microcephaly, typically presenting in early childhood. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely not tolerated.

OMIM ResearchSummary from RefSeq, UniProt

Enables several functions, including Tat protein binding activity; cargo adaptor activity; and ubiquitin protein ligase binding activity. Acts upstream of or within glycophagy. Located in autophagosome and mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

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

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.50

LOEUF

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Mechanism