KIF3B

Chr 20

kinesin family member 3B

Also known as: FLA8, HH0048, KLP-11, OTSC12, RP89

NCBI Gene: 9371 ENSG00000101350 UniProt: O15066

The KIF3B protein is a microtubule-based molecular motor that transports intracellular cargos such as vesicles and organelles, and plays a role in cilia formation and photoreceptor integrity. Mutations cause retinitis pigmentosa 89, inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function variants (LOEUF 0.45), suggesting that such mutations are likely pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene acts as a heterodimer with kinesin family member 3A to aid in chromosome movement during mitosis and meiosis. The encoded protein is a plus end-directed microtubule motor and can interact with the SMC3 subunit of the cohesin complex. In addition, the encoded protein may be involved in the intracellular movement of membranous organelles. This protein and kinesin family member 3A form the kinesin II subfamily of the kinesin superfamily. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRetinitis pigmentosa 89

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.45

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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