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FLASH GENE

Symbol

LARGE

contributors: mct - updated : 22-11-2011

HGNC name	like-glycosyltransferase
HGNC id	6511

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MDC1D , WLKWS3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in FCMD, MEB, WLKWS, LGMD2I tumoral         repression of LARGE is responsible for the defects in dystroglycan-mediated cell adhesion in epithelium-derived cancer cells (de Bernabé 2009)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neuromuscular myopathy   potential therapies in the dystroglycanopathies based on LARGE upregulation and alpha-dystroglycan hyperglycosylation in muscle should be safe

ANIMAL & CELL MODELS