Search for a gene
CACNA1C - calcium voltage-gated channel subunit alpha1 C
- Synonym(s) : CACH2, CACN2, Cav1.2, LQT8, TS
- Previous symbols and names : CACNL1A1, CCHL1A1, calcium channel, voltage-dependent, L type, alpha 1C subunit
- Type : gene with protein product
- Chromosomal location : 12p13.33
- OMIM: 114205
- HGNC: 1390
- UniProtKB: Q13936
- Genatlas: CACNA1C
- GenCC: CACNA1C
- Ensembl: ENSG00000151067
- IUPHAR-DB: 529
- Reactome: Q13936
- LOVD: CACNA1C
Diseases list
- Disease-causing germline mutation(s) in Atypical Timothy syndrome
ORPHA:595109 
- Disease-causing germline mutation(s) in Brugada syndrome
ORPHA:130 - Disease-causing germline mutation(s) in Non-specific syndromic intellectual disability
ORPHA:528084 - Disease-causing germline mutation(s) in Romano-Ward syndrome
ORPHA:101016 - Disease-causing germline mutation(s) in Timothy syndrome type 1
ORPHA:595098 - Disease-causing germline mutation(s) in Timothy syndrome type 2
ORPHA:595105
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.