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Literature summary for 5.6.1.1 extracted from

  • Mancuso, G.; Rugarli, E.I.
    A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform (2008), BMC Biol., 6, 31.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 5.6.1.1

Protein Variants

Protein Variants Comment Organism
P45Q leading to an early onset severe form of hereditary spastic paraplegia when present in heterozygosity with a mutant allele Homo sapiens
S44L leading to an early onset severe form of hereditary spastic paraplegia when present in heterozygosity with a mutant allele Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
60000
-
 SDS-PAGE, 1 isoform Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9UBP0
-
-

Source Tissue

Source Tissue Comment Organism Textmining
HEK-293 cell
-
 Homo sapiens
-
HeLa cell
-
 Homo sapiens
-
motoneuron
-
 Homo sapiens
-
SH-SY5Y cell
-
 Homo sapiens
-

Synonyms

Synonyms Comment Organism
microtubule-severing ATPase
-
 Homo sapiens
spastin
-
 Homo sapiens
SPG4
-
 Homo sapiens