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Literature summary for 3.4.24.B18 extracted from

  • Bonn, F.; Pantakani, K.; Shoukier, M.; Langer, T.; Mannan, A.U.
    Functional evaluation of paraplegin mutations by a yeast complementation assay (2010), Hum. Mutat., 31, 617-621.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
AFG3L2 and paraplegin expressed in yeast Homo sapiens

Protein Variants

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

Localization Comment Organism GeneOntology No. Textmining
mitochondrial inner membrane
-
Homo sapiens 5743
-

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9UQ90 paraplegin subunit
-

Subunits

Subunits Comment Organism
More hetero-oligomeric, paraplegin (encoded by SPG7 gene) and AFG3L2 subunits assembles into an oligomeric complex Homo sapiens

Synonyms

Synonyms Comment Organism
m-AAA protease
-
Homo sapiens

General Information

General Information Comment Organism
physiological function mutations in the SPG7 gene (paraplegin) cause an autosomal recessive form of hereditary spastic paraplegias Homo sapiens