CACNA1E gene

calcium voltage-gated channel subunit alpha1 E

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]

From UniProt:

Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells (PubMed:30343943). They are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by nickel. They are however insensitive to dihydropyridines (DHP). Calcium channels containing alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is important for information processing.

From NCBI Gene:

  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69

From UniProt:

Epileptic encephalopathy, early infantile, 69 (EIEE69): A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE69 is an autosomal dominant form characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development often associated with macrocephaly, hyperkinetic movements, and contractures. The disorder can sometimes result in early death. Some patients may have a favorable seizure response to topiramate medication. [MIM:618285]

Cytogenetic Location: 1q25.3, which is the long (q) arm of chromosome 1 at position 25.3

Molecular Location: base pairs 181,317,712 to 181,808,084 on chromosome 1 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 1q25.3, which is the long (q) arm of chromosome 1 at position 25.3
  • BII
  • CACH6
  • CACNL1A6
  • Cav2.3
  • EIEE69
  • gm139