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NEDNEH

Chr 9AR

calcium voltage-gated channel subunit alpha1 B

Also known as: BIII, CACNL1A5, CACNN, Cav2.2, DYT23, NEDNEH

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsMIM #618497
AR

Clinical highlights

Gene–disease validity
Not independently assessedOMIM lists Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements; no ClinGen or GenCC tier
0
Active trials
0
Pubs (1 yr)
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P/LP submissions
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P/LP missense
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LOEUF
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Mechanism
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/NEDNEH?content-type=application/json

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

NEDNEH · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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