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FLASH GENE

Symbol

GALC

contributors: mct - updated : 04-11-2014

HGNC name	galactosylceramidase (Krabbe disease)
HGNC id	4115

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

GALCD

related resource

Krabbe Disease at GeneDis

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function affects stem/progenitor cell survival, proliferation and self-renewal in the SVZ niche in a cell-autonomous manner

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Twi-5J display gliosis and globoid cell accumulation in the forebrain, and psychosine accumulation without extensive perturbations in CNS myelination
	proliferation/self-renewal of neural stem cells (NSCs) and survival of their neuronal and oligodendroglial progeny are impaired in Galc-deficient mice