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FLASH GENE
Symbol C19orf12 contributors: mct/shn - updated : 19-07-2013
HGNC name chromosome 19 open reading frame 12
HGNC id 25443
ASSOCIATED DISORDERS
corresponding disease(s) NBIA4 , SPG43
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
subcellular distribution alteration of C19orf12 in cells expressing a Myc-tagged C19orf12 containing the SPG43 mutation p.Ala63Pro. The mutant fusion protein is located throughout the cytoplasm in a majority of cells