UNC5C

Chr 4

unc-5 netrin receptor C

Also known as: UNC5H3

NCBI Gene: 8633 ENSG00000182168 UniProt: O95185 OMIM: 603610

This gene encodes a netrin receptor that mediates axon repulsion during neural development by binding netrin-1 and triggering growth cone repulsion in the developing nervous system. The gene is highly constrained against loss-of-function variants (pLI ~0.0009, LOEUF 0.49), suggesting intolerance to haploinsufficiency. Mutations in UNC5C cause autosomal dominant neurodevelopmental disorders affecting the central nervous system, though specific phenotypes and age of onset require further characterization.

OMIM ResearchSummary from RefSeq, UniProt

This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAlzheimer disease

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

0.49

LOEUF

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Mechanism