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FLASH GENE

Symbol

GABBR2

contributors: mct - updated : 27-09-2018

HGNC name	gamma-aminobutyric acid (GABA) B receptor, 2
HGNC id	4507

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

NDPLHS , EIEE59

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   significant reductions in GABBR1, GABBR2 density were demonstrated in the anterior and posterior cingulate cortex, suggesting that alterations in this key inhibitory receptor subtype may contribute to the functional deficits in individuals with autism

Susceptibility

to nicotine dependence to severe epileptic encephalopathies to Developmental and epileptic encephalopathy (DEE)

Variant & Polymorphism other	causative role of GABBR2 mutations in severe epileptic encephalopathies
	de novo missense mutations in GABBR2 have the potential to cause DEE

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS