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FLASH GENE

Symbol

SYN1

contributors: mct/shn/pgu - updated : 24-06-2015

HGNC name	synapsin I
HGNC id	11494

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ELDX

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function impaired SYN1 function is associated with hyperexcitability of the temporoinsular network and disturbance of high mental functions such as language and social interaction

Susceptibility

to lupus erythematosus to autism spectrum disorders with epilepsy or not

Variant & Polymorphism other	Q555X mutation associated to autism spectrum disorders with epilepsy or not

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	synapsin I-deficient mice display a severely retarded outgrowth of predendritic neurites, synapse formation and axons of hippocampal neurons
	Synapsin knock-out (Syn1(-/-) ) mice display an epileptic phenotype