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FLASH GENE

Symbol

GPD1L

contributors: mct/npt - updated : 04-01-2010

HGNC name	glycerol-3-phosphate dehydrogenase 1-like
HGNC id	28956

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

BRGS2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       reduce cardiac Na+ current (I(Na)), may downregulate SCN5A by altering the oxidized to reduced NAD(H) balance and cause Brugada Syndrome (Liu 2009)

Susceptibility

to Brugada syndrome to sudden infant death syndrome

Variant & Polymorphism SNP	single-nucleotide polymorphism increasing the risk of Brugada syndrome in Japanese, minor role (Makiyama 2008)
	mutations causing a small subset of sudden infant death syndrome via a secondary loss-of-function mechanism whereby perturbations in GPD1L precipitate a marked decrease in the peak sodium current and a potentially lethal Brugada syndrome-like proarrhythmic substrate (Van Norstrand 2007)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS