KLC2

Chr 11AR

kinesin light chain 2

NCBI Gene: 64837 ENSG00000174996 UniProt: Q9H0B6 OMIM: 611729

The encoded protein is a kinesin light chain that transports vesicles and organelles along microtubules and recruits kinesin-1 to lysosomes for lysosomal transport. Mutations cause spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.32), indicating intolerance to protein loss.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a light chain of kinesin, a molecular motor responsible for moving vesicles and organelles along microtubules. Defects in this gene are a cause of spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. [provided by RefSeq, Mar 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spastic paraplegia, optic atrophy, and neuropathyMIM #609541

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

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Mechanism