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FLASH GENE
Symbol SPART contributors: mct/shn - updated : 22-01-2020
HGNC name spastic paraplegia 20 (Troyer syndrome)
HGNC id 18514
ASSOCIATED DISORDERS
corresponding disease(s) SPG20
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --low  
hypermethylated in 89p100 of colorectal carcinomas, 78p100 of adenomas and only 1p100 of normal mucosa samples
tumoral     --low  
in cancer cells resulted in cytokinesis arrest, which was reversed when SPG20 methylation was inhibited
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
  • SPG20 promoter hypermethylation as a biomarker suitable for non-invasive detection of colorectal cancer, and a possible mechanism for cytokinesis arrest in colorectal tumorigenesis
  • ANIMAL & CELL MODELS
  • Loss of Spartin in Drosophila induces age-dependent progressive defects resembling hereditary spastic paraplegias, including motor dysfunction and brain neurodegeneration