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FLASH GENE
Symbol KCNC2 contributors: mct - updated : 12-06-2024
HGNC name potassium voltage-gated channel, Shaw-related subfamily, member 2
HGNC id 6234
ASSOCIATED DISORDERS
corresponding disease(s) DEE103
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
of KCNC2 and ATXN7L3B, leading to neurodevelopmental delay and cerebellar ataxia
constitutional     --low  
could play a role in the cognitive symptoms of Alzheimer disease
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS