KLC4

Chr 6AR

kinesin light chain 4

Also known as: CONDRHN, KNSL8, bA387M24.3

NCBI Gene: 89953 ENSG00000137171 UniProt: Q9NSK0 OMIM: 620909

The KLC4 protein is a kinesin light chain that enables kinesin binding and is involved in microtubule-based organelle transport within cells. Mutations cause early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy, following autosomal recessive inheritance. This multisystem disorder affects the retina, auditory system, and peripheral nerves in addition to causing central neurodegeneration.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Predicted to enable kinesin binding activity. Predicted to be involved in microtubule-based movement. Predicted to be located in microtubule. Predicted to be part of kinesin complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathyMIM #621129

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

0.53

LOEUF

Mechanism· predicted