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Gene: CACNA1A (calcium voltage-gated channel subunit alpha1 A) Homo sapiens
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Symbol: CACNA1A
Name: calcium voltage-gated channel subunit alpha1 A
Description: Exhibits high voltage-gated calcium channel activity and syntaxin binding activity. Involved in several processes, including calcium ion transmembrane transport; cellular response to amyloid-beta; and positive regulation of cytosolic calcium ion concentration. Localizes to several cellular components, including the cell projection; nucleus; and plasma membrane. Implicated in early infantile epileptic encephalopathy 42; hereditary ataxia (multiple); and migraine (multiple). Biomarker of hereditary ataxia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: APCA; BI; brain calcium channel 1; brain calcium channel I; CACNL1A4; calcium channel, L type, alpha-1 polypeptide; calcium channel, voltage-dependent, alpha 1a subunit; calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; CAV2.1; EA2; EIEE42; fetal brain Ca2+ voltage-gated channel alpha1A pore-forming subunit; FHM; HPCA; MHP; MHP1; SCA6; voltage-dependent P/Q-type calcium channel subunit alpha-1A; voltage-gated calcium channel subunit alpha Cav2.1
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1913,206,442 - 13,633,025 (-)EnsemblGRCh38hg38GRCh38
GRCh381913,206,442 - 13,506,479 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371913,317,256 - 13,617,274 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361913,178,256 - 13,478,274 (-)NCBINCBI36hg18NCBI36
Build 341913,179,114 - 13,478,317NCBI
Celera1913,207,639 - 13,507,772 (-)NCBI
Cytogenetic Map19p13.13NCBI
HuRef1912,889,634 - 13,189,171 (-)NCBIHuRef
CHM1_11913,318,256 - 13,618,198 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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