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SPG10

AD

spastic paraplegia 10 (autosomal dominant)

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.

OMIMResearchSummary from OMIM
LOFmechanismAD1 OMIM phenotype
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SPG10?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SPG10 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

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