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Calcium Channel, Voltage Dependent, P/Q-Type, Alpha 1A Subunit (CACNa1A)

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APCA; CACNL1A4; CAV2.1; EA2; FHM; HPCA; MHP; MHP1; SCA6; Brain calcium channel I; Calcium channel, L type, alpha-1 polypeptide isoform 4

Calcium Channel, Voltage Dependent, P/Q-Type, Alpha 1A Subunit (CACNa1A)
CCC F239
HGNC 1388
MGI 109482
PubMed 23115190
RGD 2244
UniProt O00555
Wiki CACNA1A
CACNa1A encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants have been described, however, the full-length nature of not all is known. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Calcium Channel, Voltage Dependent, P/Q-Type, Alpha 1A Subunit (CACNa1A) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Calcium Channel, Voltage Dependent, P/Q-Type, Alpha 1A Subunit (CACNa1A) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Calcium Channel, Voltage Dependent, P/Q-Type, Alpha 1A Subunit (CACNa1A) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Calcium Channel, Voltage Dependent, P/Q-Type, Alpha 1A Subunit (CACNa1A) CLIA Kit Customized Service Offer
n/a ELISA Kit for Calcium Channel, Voltage Dependent, P/Q-Type, Alpha 1A Subunit (CACNa1A) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Calcium Channel, Voltage Dependent, P/Q-Type, Alpha 1A Subunit (CACNa1A) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Calcium Channel, Voltage Dependent, P/Q-Type, Alpha 1A Subunit (CACNa1A) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Calcium Channel, Voltage Dependent, P/Q-Type, Alpha 1A Subunit (CACNa1A) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Calcium Channel, Voltage Dependent, P/Q-Type, Alpha 1A Subunit (CACNa1A) CLIA Kit Customized Service Offer
n/a ELISA Kit for Calcium Channel, Voltage Dependent, P/Q-Type, Alpha 1A Subunit (CACNa1A) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Calcium Channel, Voltage Dependent, P/Q-Type, Alpha 1A Subunit (CACNa1A) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Calcium Channel, Voltage Dependent, P/Q-Type, Alpha 1A Subunit (CACNa1A) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Calcium Channel, Voltage Dependent, P/Q-Type, Alpha 1A Subunit (CACNa1A) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Calcium Channel, Voltage Dependent, P/Q-Type, Alpha 1A Subunit (CACNa1A) CLIA Kit Customized Service Offer
n/a ELISA Kit for Calcium Channel, Voltage Dependent, P/Q-Type, Alpha 1A Subunit (CACNa1A) ELISA Kit Customized Service Offer
  1. "Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A-containing high-voltage-activated calcium channels."Biophys. J. 76:1384-1400(1999) [PubMed] [Europe PMC] [Abstract]
  2. "Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4."Cell 87:543-552(1996) [PubMed] [Europe PMC] [Abstract]
  3. "Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel."Nat. Genet. 15:62-69(1997) [PubMed] [Europe PMC] [Abstract]
  4. "Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function."J. Biol. Chem. 275:10893-10898(2000) [PubMed] [Europe PMC] [Abstract]
  5. "The DNA sequence and biology of human chromosome 19." Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Expression and antibody inhibition of P-type calcium channels in human small-cell lung carcinoma cells."J. Neurosci. 15:274-283(1995) [PubMed] [Europe PMC] [Abstract]
  7. "Molecular diversity of neuronal-type calcium channels identified in small cell lung carcinoma."Mayo Clin. Proc. 67:1150-1159(1992) [PubMed] [Europe PMC] [Abstract]
  8. "Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain."Somat. Cell Mol. Genet. 21:279-284(1995) [PubMed] [Europe PMC] [Abstract]
  9. "Differential modulation of Ca(v)2.1 channels by calmodulin and Ca2+-binding protein 1."Nat. Neurosci. 5:210-217(2002) [PubMed] [Europe PMC] [Abstract]
  10. "Crystal structure of the CaV2 IQ domain in complex with Ca2+/calmodulin: high-resolution mechanistic implications for channel regulation by Ca2+."Structure 16:607-620(2008) [PubMed] [Europe PMC] [Abstract]
  11. "Progressive ataxia due to a missense mutation in a calcium-channel gene."Am. J. Hum. Genet. 61:1078-1087(1997) [PubMed] [Europe PMC] [Abstract]
  12. "Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p."Hum. Mol. Genet. 6:1973-1978(1997) [PubMed] [Europe PMC] [Abstract]
  13. "Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM."Hum. Genet. 105:261-265(1999) [PubMed] [Europe PMC] [Abstract]
  14. "Genetic heterogeneity in Italian families with familial hemiplegic migraine."Neurology 53:26-33(1999) [PubMed] [Europe PMC] [Abstract]
  15. "Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine."Ann. Neurol. 49:753-760(2001) [PubMed] [Europe PMC] [Abstract]
  16. "Missense CACNA1A mutation causing episodic ataxia type 2."Arch. Neurol. 58:292-295(2001) [PubMed] [Europe PMC] [Abstract]
  17. "The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel."N. Engl. J. Med. 345:17-24(2001) [PubMed] [Europe PMC] [Abstract]
  18. "Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission."Neurology 57:1843-1848(2001) [PubMed] [Europe PMC] [Abstract]
  19. "Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene."J. Neurol. 249:1515-1519(2002) [PubMed] [Europe PMC] [Abstract]
  20. "Functional implications of a novel EA2 mutation in the P/Q-type calcium channel."Ann. Neurol. 56:213-220(2004) [PubMed] [Europe PMC] [Abstract]
  21. "A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine."Clin. Genet. 65:70-72(2004) [PubMed] [Europe PMC] [Abstract]
  22. "Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2."J. Med. Genet. 41:E82-E82(2004) [PubMed] [Europe PMC] [Abstract]
  23. "Clinical spectrum of episodic ataxia type 2."Neurology 62:17-22(2004) [PubMed] [Europe PMC] [Abstract]
  24. "Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4."Headache 46:1136-1141(2006) [PubMed] [Europe PMC] [Abstract]
  25. "Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene."J. Neurol. Sci. 241:13-17(2006) [PubMed] [Europe PMC] [Abstract]
  26. "CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine."Clin. Genet. 74:481-485(2008) [PubMed] [Europe PMC] [Abstract]
  27. "Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation."Eur. J. Paediatr. Neurol. 13:191-193(2009) [PubMed] [Europe PMC] [Abstract]
  28. "Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene."J. Neurol. Sci. 280:10-14(2009) [PubMed] [Europe PMC] [Abstract]
  29. "The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility."Neurosci. Lett. 453:12-15(2009) [PubMed] [Europe PMC] [Abstract]
  30. "A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation."J. Neurol. Neurosurg. Psych. 81:840-843(2010) [PubMed] [Europe PMC] [Abstract]
  31. "Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2."J. Neurol. Sci. 291:30-36(2010) [PubMed] [Europe PMC] [Abstract]
  32. "New mutation of CACNA1A gene in episodic ataxia type 2."Pediatr. Int. 53:415-416(2011) [PubMed] [Europe PMC] [Abstract]