KIF26B

Chr 1

kinesin family member 26B

NCBI Gene: 55083 ENSG00000162849 UniProt: Q2KJY2 OMIM: 614026

KIF26B encodes an intracellular motor protein that transports organelles along microtubules and is essential for embryonic kidney development by maintaining mesenchymal cell adhesion adjacent to ureteric buds. Mutations cause congenital anomalies of the kidney and urinary tract (CAKUT) with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants, indicating that biallelic mutations typically result in severe developmental kidney abnormalities.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is an intracellular motor protein thought to transport organelles along microtubules. The encoded protein is required for kidney development. Elevated levels of this protein have been found in some breast and colorectal cancers. [provided by RefSeq, Mar 2017]

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

0.21

LOEUF· LoF intol.

LOF

Mechanism· predicted