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	HGNC	UniGene	Nucleotide	OMIM	UCSC

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FLASH GENE

Symbol

CACNA1H

contributors: mct - updated : 08-12-2016

HGNC name	calcium channel, voltage-dependent, alpha 1H subunit
HGNC id	1395

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ECA6

Susceptibility

to childhood absence epilepsy (see ECA4)

Variant & Polymorphism SNP	increasing the risk of childhood absence epilepsy

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed miscelleaneous pain   enhancement of CACNA1H currents in afferent neurons is mediated by deubiquitination of the channels by the deubiquitinase USP5, and disrupting USP5/CACNA1H interactions protected from inflammatory and neuropathic pain

ANIMAL & CELL MODELS