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FLASH GENE
Symbol CACNA1C contributors: mct/npt/pgu - updated : 20-11-2015
HGNC name calcium channel, voltage-dependent, L type, alpha 1C subunit
HGNC id 1390
ASSOCIATED DISORDERS
corresponding disease(s) TMTS , BRGS3
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in esophageal squamous cell carcinoma (ESCC)
Susceptibility to bipolar disorder, and schizophrenia
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cardiovascular  
testosterone binding to CACNA1C, thereby supporting its beneficial role as an endogenous Ca2+ channel antagonist in the treatment of cardiovascular disease
ANIMAL & CELL MODELS
  • mice expressing CACNA1C channels with the distal C terminus deleted (DCT-/-) develop cardiac hypertrophy and die prematurely after E15