ATG4D Chromosome 19

Autophagy related 4D cysteine peptidase
4 variants 4 Health Risk

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What This Gene Does
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 belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
"Autophagy related|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000130734
Associated Conditions (4)
ASHER
ATG4D-related neurodevelopmental condition
Neurodevelopmental disorder
See cases
Key Variants
All Variants (4)
RSID Category Clinical Significance Conditions
RS148969864 Health Risk Conflicting classifications of pathogenicity ASHER, ATG4D-related neurodevelopmental condition, ASHER
RS200278873 Health Risk Conflicting classifications of pathogenicity ASHER, Neurodevelopmental disorder, ATG4D-related neurodevelopmental condition
RS1289649383 Health Risk Pathogenic ASHER, ASHER
RS2512481936 Health Risk Pathogenic See cases, See cases
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