CACNA1B Chromosome 9
Calcium voltage-gated channel subunit alpha1 B
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What This Gene Does
The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
"EF-hand domain containing|Calcium voltage-gated channel alpha1 subunits"
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000148408
Associated Conditions (5)
CACNA1B-related disorder
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
Dystonia 23
See cases
Complex neurodevelopmental disorder with motor features
Key Variants
RS1035718413
Conflicting classifications of pathogenicity
Health Risk
RS1200621914
Conflicting classifications of pathogenicity
CACNA1B-related disorder, CACNA1B-related disorder
Health Risk
RS148799345
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, CACNA1B-related disorder, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
Health Risk
RS149071215
Conflicting classifications of pathogenicity
Health Risk
RS184841813
Conflicting classifications of pathogenicity
Dystonia 23, Dystonia 23
Health Risk
RS188868966
Conflicting classifications of pathogenicity
CACNA1B-related disorder, CACNA1B-related disorder
Health Risk
RS190549473
Conflicting classifications of pathogenicity
Health Risk
RS199847935
Conflicting classifications of pathogenicity
Health Risk
RS199894458
Conflicting classifications of pathogenicity
Health Risk
RS200007246
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS200021661
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
Health Risk
RS200122209
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
Health Risk
All Variants (68)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554738159 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements |
| RS1554752310 | Health Risk | Pathogenic | — |
| RS1554758408 | Health Risk | Pathogenic | — |
| RS1589093778 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements |
| RS1589095160 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements |
| RS1589112601 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements |
| RS1961967035 | Health Risk | Pathogenic | — |
| RS2133277436 | Health Risk | Pathogenic | — |
| RS2539149383 | Health Risk | Pathogenic | — |
| RS2539273554 | Health Risk | Pathogenic | — |
| RS2539372922 | Health Risk | Pathogenic | — |
| RS2539373332 | Health Risk | Pathogenic | — |
| RS2539375126 | Health Risk | Pathogenic | — |
| RS2539417930 | Health Risk | Pathogenic | — |
| RS2539458600 | Health Risk | Pathogenic | — |
| RS2539590504 | Health Risk | Pathogenic | — |
| RS2539609617 | Health Risk | Pathogenic | — |
| RS778439899 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements |