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FLASH GENE

Symbol

GPHN

contributors: mct/npt/pgu - updated : 09-11-2016

HGNC name	gephyrin
HGNC id	15465

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MOCODC , STHE2 , EEOC2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       with MLL in t(11;14) (q23;q24) in acute monoblastic leukemia constitutional     --low   significantly lower in the temporal neocortex of temporal lobe epilepsy patients compared to the controls constitutional     --low   in Alzheimer Disease

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Gephyrin-deficient (geph(-/-)) mice die after birth due to disinhibition of motor and sensory pathways resulting from a lack of postsynaptic glycine receptor and GABA(A) receptor clusters