ATG4A

Chr X

autophagy related 4A cysteine peptidase

Also known as: APG4A, AUTL2, HsAPG4A

NCBI Gene: 115201 ENSG00000101844 UniProt: Q8WYN0

ATG4A encodes a cysteine protease that processes ATG8 family proteins for autophagy by cleaving their C-terminus and removing them from membranes, and also regulates mitochondrial autophagy through ATG9A trafficking. Mutations cause autosomal recessive spastic paraplegia with early childhood onset, characterized by progressive spasticity and intellectual disability. This gene is highly constrained against loss-of-function variants (pLI = 0.99, LOEUF = 0.26), indicating intolerance to protein-truncating mutations.

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. [provided by RefSeq, Mar 2016]

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

0.26

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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