UNC5A

Chr 5

unc-5 netrin receptor A

Also known as: UNC5H1

NCBI Gene: 90249 ENSG00000113763 UniProt: Q6ZN44

UNC5A encodes a netrin-1 receptor that mediates axon guidance and repulsion during nervous system development, promoting neurite outgrowth and triggering apoptosis when not bound to its ligand. Mutations cause congenital mirror movements, a neurological condition characterized by involuntary mirroring movements of the opposite limb during voluntary unilateral movements. The condition follows an autosomal dominant inheritance pattern.

ResearchSummary from RefSeq, UniProt

UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM, Apr 2004]

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)

—

P/LP submissions

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P/LP missense

0.20

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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