DRAXIN

Chr 1

dorsal inhibitory axon guidance protein

Also known as: AGPA3119, C1orf187, UNQ3119, neucrin

NCBI Gene: 374946 ENSG00000162490 UniProt: Q8NBI3 OMIM: 612682

DRAXIN encodes a chemorepulsive axon guidance protein that is essential for the development of spinal cord and forebrain commissures and acts as an antagonist of Wnt signaling by inhibiting beta-catenin stabilization. Mutations cause autosomal recessive horizontal gaze palsy with progressive scoliosis, characterized by absence of horizontal eye movements and progressive spinal curvature that typically becomes apparent in childhood or adolescence. The gene shows minimal constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Enables molecular adaptor activity. Predicted to be involved in negative regulation of canonical Wnt signaling pathway and nervous system development. Predicted to act upstream of or within negative regulation of axon extension and negative regulation of neuron apoptotic process. Predicted to be active in extracellular region. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.53

LOEUF

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Mechanism