KIF6

Chr 6

kinesin family member 6

Also known as: C6orf102, dJ1043E3.1, dJ137F1.4, dJ188D3.1

NCBI Gene: 221458 ENSG00000164627 UniProt: Q6ZMV9

This protein functions as a molecular motor that transports protein complexes, organelles, and mRNA along microtubules within cells. Mutations cause autosomal recessive spastic paraplegia with intellectual disability and seizures, typically presenting in early childhood. The gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq

This gene encodes a member of a family of molecular motors which are involved in intracellular transport of protein complexes, membrane organelles, and messenger ribonucleic acid along microtubules. Kinesins function as homodimeric molecules with two N-terminal head domains that move along microtubules and two C-terminal tail domains that interact with the transported cargo, either directly or indirectly, through adapter molecules. This gene is ubiquitously expressed in coronary arteries and other vascular tissue. A naturally occurring mutation in this gene is associated with coronary heart disease. [provided by RefSeq, May 2017]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.10

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)