FZD8

Chr 10

frizzled class receptor 8

Also known as: FZ-8, hFZ8

NCBI Gene: 8325 ENSG00000177283 UniProt: Q9H461

The FZD8 protein is a seven-transmembrane receptor for Wnt signaling proteins that activates the beta-catenin canonical pathway, which is essential for tissue morphogenesis and cellular polarity during development. Mutations cause autosomal dominant microcephaly, seizures, and developmental delay, with onset in infancy or early childhood. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

ResearchSummary from RefSeq, UniProt

This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This gene is highly expressed in two human cancer cell lines, indicating that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined. [provided by RefSeq, Jul 2008]

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

0.42

LOEUF

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Mechanism

Some data sources returned errors (1)

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