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Gene: CACNA1C (calcium voltage-gated channel subunit alpha1 C) Homo sapiens
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Symbol: CACNA1C
Name: calcium voltage-gated channel subunit alpha1 C
Description: Exhibits alpha-actinin binding activity; calmodulin binding activity; and voltage-gated calcium channel activity. Involved in several processes, including calcium ion transmembrane transport via high voltage-gated calcium channel; embryonic forelimb morphogenesis; and regulation of heart contraction. Localizes to the L-type voltage-gated calcium channel complex; cytoplasm; and postsynaptic density. Implicated in Brugada syndrome 3 and Timothy syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CACH2; CACN2; CACNL1A1; calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit; calcium channel, L type, alpha 1 polypeptide, isoform 1, cardic muscle; calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle; calcium channel, voltage-dependent, alpha 1c subunit; calcium channel, voltage-dependent, L type, alpha 1C subunit; CaV1.2; CCHL1A1; DHPR, alpha-1 subunit; LQT8; MGC120730; TS; TS. LQT8; voltage-dependent L-type Ca2+ channel alpha 1 subunit; voltage-dependent L-type calcium channel subunit alpha-1C; voltage-gated calcium channel alpha subunit Cav1.2; voltage-gated calcium channel subunit alpha Cav1.2; voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10*
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38121,969,552 - 2,697,950 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37122,079,952 - 2,807,115 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,032,725 - 2,677,376 (+)NCBINCBI36hg18NCBI36
Build 34122,032,724 - 2,672,368NCBI
Celera123,770,102 - 4,421,688 (+)NCBI
Cytogenetic Map12p13.33NCBI
HuRef122,016,425 - 2,664,566 (+)NCBIHuRef
CHM1_1122,161,408 - 2,806,152 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Expression


Sequence

Nucleotide Sequences