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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SPG20

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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