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FLASH GENE

Symbol

SCN2A

contributors: mct - updated : 19-05-2008

HGNC name	sodium channel, voltage-gated, type II, alpha subunit
HGNC id	10588

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

BFNIS , DEL2Q24 , EIEE11

Susceptibility

to autism

Variant & Polymorphism SNP	variant R1902C in SCN2A is located in the calmodulin binding site and was found to reduce binding affinity for calcium-bound calmodulin, and associated to autism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS