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FLASH GENE

Symbol

FIG4

contributors: mct - updated : 25-01-2014

HGNC name	FIG4 homolog (S. cerevisiae)
HGNC id	16873

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CMT4J , YVS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function results in spongiform degeneration

Susceptibility

to amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS)

Variant & Polymorphism other	allele of FIG4 appears to be a risk factor for ALS and PLS

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	homozygous Fig4-null mice exhibit features of YVS, including neurodegeneration and enlarged vacuoles in neurons
	null mutation of Fig4 in the mouse results in spongiform degeneration of brain and peripheral ganglia, defective myelination and juvenile lethality