Details for Gene AFG3L2

GENE NAME AFG3L2
CHROMOSOME 18
ENSEMBL ID ENSG00000141385
ENTREZ ID 10939
UNIPROT ACCESSION NUMBER Q9Y4W6
GO MOLECULAR FUNCTION protein binding; ATP-dependent peptidase activity; ATP hydrolysis activity; unfolded protein binding; metallopeptidase activity; ATP binding; zinc ion binding; metalloendopeptidase activity
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-8949215; R-HSA-382551; R-HSA-8949664; hsa05017
1 combination linked to AFG3L2 OLI1151
1 variant linked to AFG3L2 AFG3L2:c.2114T>C, p.Ile705Thr
1 disease linked to AFG3L2 Hereditary spastic paraplegia

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