ATG4B

Chr 2

autophagy related 4B cysteine peptidase

Also known as: APG4B, AUTL1, HsAPG4B

NCBI Gene: 23192 ENSG00000168397 UniProt: Q9Y4P1 OMIM: 611338

ATG4B encodes a cysteine protease essential for autophagy, mediating both proteolytic activation and delipidation of ATG8 family proteins required for cellular degradation of damaged organelles and proteins. The gene is highly constrained against loss-of-function variants (pLI 0.96, LOEUF 0.34), but no specific human disease has been definitively associated with ATG4B mutations to date. Any potential disorders would likely follow autosomal recessive inheritance given the gene's essential cellular function.

OMIM ResearchSummary from RefSeq, UniProt

Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

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

0.34

LOEUF· LoF intol.

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Mechanism