| GENE NAME | SPG7 |
| CHROMOSOME | 16 |
| ENSEMBL ID | ENSG00000197912 |
| ENTREZ ID | 6687 |
| UNIPROT ACCESSION NUMBER | A0A2U3TZH1 |
| GO MOLECULAR FUNCTION | protein binding; ATP-dependent peptidase activity; peptidase activity; ATP hydrolysis activity; unfolded protein binding; ATP binding; zinc ion binding; metalloendopeptidase activity |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | R-HSA-382551; R-HSA-8949215; R-HSA-8949664 |
| 7 combinations linked to SPG7 | OLI1148; OLI1153; OLI1150; OLI1151; OLI1149; OLI1147; OLI1152 |
| 5 variants linked to SPG7 | SPG7:c.1529C>T, p.Ala510Val; SPG7:c.2293G>A, p.Asp765Asn; SPG7:c.1796G>T, p.Arg599Leu; SPG7:c.376+1G>T, ; SPG7:c.2146A>G, p.Lys716Glu |
| 1 disease linked to SPG7 | Hereditary spastic paraplegia |