NKD1

Chr 16

NKD inhibitor of Wnt signaling pathway 1

Also known as: Naked1

NCBI Gene: 85407 ENSG00000140807 UniProt: Q969G9

The NKD1 protein functions as a cell autonomous antagonist of the canonical Wnt signaling pathway by binding to Dishevelled and may also activate a secondary Wnt pathway controlling planar cell polarity. This gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.27), but specific disease associations with NKD1 mutations have not yet been established in humans. The gene follows autosomal inheritance patterns.

ResearchSummary from RefSeq, UniProt

In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the Wnt (see WNT1; MIM 164820)-beta-catenin (see MIM 116806)-Tcf (see MIM 602272) signaling pathway.[supplied by OMIM, Jun 2003]

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

0.27

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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