Entity Details

Primary name CACNA1B
Entity type gene
Source Source Link

Details

PrimaryID774
RefseqGeneNG_042271
SymbolCACNA1B
Namecalcium voltage-gated channel subunit alpha1 B
Chromosome9
Location9q34.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCAC1B_HUMAN

GO terms

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GOName
GO:0001540 amyloid-beta binding
GO:0005245 voltage-gated calcium channel activity
GO:0005509 calcium ion binding
GO:0005524 ATP binding
GO:0005886 plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0006816 calcium ion transport
GO:0007268 chemical synaptic transmission
GO:0008022 protein C-terminus binding
GO:0008331 high voltage-gated calcium channel activity
GO:0034765 regulation of ion transmembrane transport
GO:0045202 synapse
GO:0050804 modulation of chemical synaptic transmission
GO:0051899 membrane depolarization
GO:0070509 calcium ion import
GO:1904645 response to amyloid-beta

Diseases

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Disease IDSourceNameDescription
618497 OMIMNeurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements (NEDNEH)An autosomal recessive, complex and progressive neurologic disorder characterized by severe neurodevelopmental delay and developmental regression, epileptic encephalopathy, postnatal microcephaly, hypotonia, and non-epileptic hyperkinetic movement disorder, including myoclonus dystonia, choreoathetosis, or generalized dyskinesia. Disease onset in infancy or first years of life. The disease may be caused by variants affecting the gene represented in this entry.