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SPG10

spastic paraplegia 10 (autosomal dominant)

NCBI Gene: 347682

The SPG10 protein (also known as KIF5A) is a kinesin heavy chain motor protein that transports cellular cargo along microtubules in neurons. Mutations cause autosomal dominant spastic paraplegia 10, characterized by progressive lower limb spasticity and weakness. This condition typically presents in adulthood and primarily affects the corticospinal tracts.

ResearchSummary from OMIM

ResearchGenerating clinical summary…

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 (3)

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