KIF18A

Chr 11

kinesin family member 18A

Also known as: MS-KIF18A, PPP1R99

NCBI Gene: 81930 ENSG00000121621 UniProt: Q8NI77 OMIM: 611271

KIF18A encodes a microtubule-depolymerizing kinesin that regulates chromosome movement during mitosis by reducing chromosome oscillations and stabilizing kinetochore complexes. Mutations cause autosomal recessive microcephaly, intellectual disability, and seizures. The gene is highly constrained against loss-of-function variants, indicating that complete loss of function is likely not tolerated.

OMIM ResearchSummary from RefSeq, UniProt

KIF18A is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that use hydrolysis of ATP to produce force and movement along microtubules (Luboshits and Benayahu, 2005 [PubMed 15878648]).[supplied by OMIM, Aug 2008]

OMIM ResearchGenerating clinical summary…

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

0.48

LOEUF

Mechanism· predicted