ATG4C

Chr 1

autophagy related 4C cysteine peptidase

Also known as: APG4-C, APG4C, AUTL1, AUTL3, HsAPG4C

NCBI Gene: 84938 ENSG00000125703 UniProt: Q96DT6 OMIM: 611339

ATG4C encodes a cysteine protease that mediates both proteolytic activation and delipidation of ATG8 family proteins, which are essential steps in the autophagy pathway for cellular homeostasis and organelle turnover. The gene shows very low constraint against loss-of-function variants (pLI near zero, LOEUF 1.4), and no definitive human disease associations have been established with ATG4C mutations to date.

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 the same protein, have been characterized. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 1.41

Clinical Summary— ATG4C

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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