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 |