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SCA34

Chr 6AD

spinocerebellar ataxia 34

NCBI Gene: 100750330 OMIM: 133190

The protein encoded by this gene functions as a voltage-gated calcium channel subunit that regulates calcium influx in neurons. Mutations cause spinocerebellar ataxia type 34, an autosomal dominant progressive cerebellar disorder characterized by adult-onset ataxia, dysarthria, and cerebellar degeneration. The condition typically presents in adulthood with slowly progressive gait instability and coordination difficulties affecting the cerebellum and its associated motor pathways.

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spinocerebellar ataxia 34MIM #133190

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (2)

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