ATG12 autophagy related 12
Gene ID: 9140, updated on 19-Sep-2024Gene type: protein coding
Also known as: APG12; FBR93; APG12L; HAPG12
- See all available tests in GTR for this gene
- Go to complete Gene record for ATG12
- Go to Variation Viewer for ATG12 variants
Summary
Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008]
Genomic context
- Location:
- 5q22.3
- Sequence:
- Chromosome: 5; NC_000005.10 (115828200..115841565, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ATG12 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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