Details for Gene ATG7

GENE NAME ATG7
CHROMOSOME 3
ENSEMBL ID ENSG00000197548
ENTREZ ID 10533
UNIPROT ACCESSION NUMBER O95352
GO MOLECULAR FUNCTION protein homodimerization activity; Atg8 activating enzyme activity; protein binding; Atg12 activating enzyme activity
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-6802952; R-HSA-983168; R-HSA-168256; hsa04613; hsa04136; hsa04140; R-HSA-5663202; R-HSA-1280218; R-HSA-168249; R-HSA-1643685; hsa04216; R-HSA-6802957; R-HSA-1632852; R-HSA-6798695; R-HSA-983169; R-HSA-9612973
1 combination linked to ATG7 OLI932
1 variant linked to ATG7 ATG7:c.1277C>T, p.Pro426Leu
1 disease linked to ATG7 Rare pervasive developmental disorder

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