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FLASH GENE

Symbol

VAPB

contributors: mct/npt/pgu - updated : 05-01-2017

HGNC name	VAMP (vesicle-associated membrane protein)-associated protein B and C
HGNC id	12649

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ALS8 , SMAPA

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   reduced levels of VAP family proteins result in decreased ER anchoring of lipid-binding proteins and cause motor neuron degeneration constitutional     --low   reduced levels of VAPB might be an initial defect leading to ALS8 pathogenesis constitutional     --low   loss of either VAPB or RMDN3 perturbs uptake of Ca(2+) by mitochondria following release from ER stores

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative   optimal levels of VAPB may play a central role in the pathogenesis of ALS8, in agreement with the observed reduction of VAPB in sporadic ALS

ANIMAL & CELL MODELS