ATG7 Chromosome 3
Autophagy related 7
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What This Gene Does
This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Gene Info
Gene Group
"Ubiquitin like modifier activating enzymes|Autophagy related"
Locus Type
gene with protein product
Location
3p25.3
Ensembl
ENSG00000197548
Associated Conditions (4)
NAFLD1
Spinocerebellar ataxia
autosomal recessive 31
Nonpapillary renal cell carcinoma
Key Variants
RS143545741
Conflicting classifications of pathogenicity
NAFLD1, Spinocerebellar ataxia, autosomal recessive 31
Health Risk
RS146589465
Conflicting classifications of pathogenicity
Health Risk
RS142493104
Pathogenic
Spinocerebellar ataxia, autosomal recessive 31, Spinocerebellar ataxia
Health Risk
RS200074530
Pathogenic
Spinocerebellar ataxia, autosomal recessive 31, Nonpapillary renal cell carcinoma
Health Risk
RS2152756968
Pathogenic
Spinocerebellar ataxia, autosomal recessive 31, Spinocerebellar ataxia
Health Risk
RS2152811529
Pathogenic
Spinocerebellar ataxia, autosomal recessive 31, Spinocerebellar ataxia
Health Risk
RS777067201
Pathogenic
Spinocerebellar ataxia, autosomal recessive 31, Spinocerebellar ataxia
Health Risk
RS201706487
Pathogenic/Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 31, Spinocerebellar ataxia
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143545741 | Health Risk | Conflicting classifications of pathogenicity | NAFLD1, Spinocerebellar ataxia, autosomal recessive 31 |
| RS146589465 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142493104 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 31, Spinocerebellar ataxia |
| RS200074530 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 31, Nonpapillary renal cell carcinoma |
| RS2152756968 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 31, Spinocerebellar ataxia |
| RS2152811529 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 31, Spinocerebellar ataxia |
| RS777067201 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 31, Spinocerebellar ataxia |
| RS201706487 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia, autosomal recessive 31, Spinocerebellar ataxia |