| GENE NAME | SPG11 |
| CHROMOSOME | 15 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000104133 |
| UNIPROT ACCESSION NUMBER | Q96JI7 |
| GO MOLECULAR FUNCTION | ['protein binding'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | hsa05014; hsa05022 |
| 8 combinations linked to SPG11 | OLI334; OLI264; OLI1704; OLI969; OLI944; OLI967; OLI1459; OLI632 |
| 10 variants linked to SPG11 | SPG11:c.6100C>T, p.Arg2034Ter; SPG11:c.5623C>T, p.Gln1875Ter; SPG11:c.6224A>G, p.Asn2075Ser; SPG11:c.4148A>G, p.Tyr1383Cys; SPG11:c.5051G>A, p.Gly1684Glu; SPG11:p.Leu2357Phe; SPG11:c.2083G>A, p.Ala695Thr; SPG11:c.1108G>A, p.Glu370Lys; SPG11:c.4365G>C, p.Trp1455Cys; SPG11:p.Cys1734Phe |
| 2 diseases linked to SPG11 | Amyotrophic lateral sclerosis; Osteopetrosis,Mental retardation,Short stature,Spastic paraparesis |