KIF5A

Chr 12AD

kinesin family member 5A

Also known as: ALS25, D12S1889, MY050, NEIMY, NKHC, SPG10

NCBI Gene: 3798 ENSG00000155980 UniProt: Q12840 OMIM: 602821

This protein functions as a microtubule motor that transports intracellular organelles throughout the cytoplasm. Mutations cause autosomal dominant spastic paraplegia 10, intractable neonatal myoclonus, and increase susceptibility to amyotrophic lateral sclerosis. The pathogenic mechanism involves disrupted intracellular transport due to impaired motor protein function.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Amyotrophic lateral sclerosis, susceptibility to, 25}MIM #617921

Myoclonus, intractable, neonatalMIM #617235

Spastic paraplegia 10, autosomal dominantMIM #604187

Clinical highlights

Gene-disease validity (ClinGen)

amyotrophic lateral sclerosis, susceptibility to, 25 · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.23

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — KIF5A