Cloned (Comment) | Organism |
---|---|
AFG3L2 and paraplegin expressed in yeast | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A510V | subunit paraplegin, function impaired, naturally occuring pathogenic mutation | Homo sapiens |
E575Q | subunit AFG3L2, homo-oligomeric complex inactive | Homo sapiens |
G349S | subunit paraplegin, function impaired, naturally occuring pathogenic mutation | Homo sapiens |
K354A | subunit AFG3L2, homo-oligomeric complex inactive | Homo sapiens |
R688Q | subunit paraplegin, polymorphism, naturally occuring mutation | Homo sapiens |
T503A | subunit paraplegin, polymorphism, naturally occuring mutation | Homo sapiens |
W583C | subunit paraplegin, function impaired, naturally occuring pathogenic mutation | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrial inner membrane | - |
Homo sapiens | 5743 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9UQ90 | paraplegin subunit | - |
Subunits | Comment | Organism |
---|---|---|
More | hetero-oligomeric, paraplegin (encoded by SPG7 gene) and AFG3L2 subunits assembles into an oligomeric complex | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
m-AAA protease | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
physiological function | mutations in the SPG7 gene (paraplegin) cause an autosomal recessive form of hereditary spastic paraplegias | Homo sapiens |