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FLASH GENE

Symbol

DLD

contributors: npt/shn - updated : 06-11-2012

HGNC name	dihydrolipoamide dehydrogenase
HGNC id	2898

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DLDD

related resource

MITOP database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	E340K, D444V, R447G, and R460G mutations in the dimer interface domain of dihydrolipoamide dehydrogenase (DLD) decrease to various degrees its activity
	under elevated oxidative stress, expression of DLD proteins with dimer interface mutations greatly accelerated the loss of respiratory function, leading to oxidative damage to the lipoic acid cofactor of pyruvate dehydrogenase and &
	945;-ketoglutarate dehydrogenase