Skip to content
GenoLensGenoLens

NTN1

Chr 17p13.1

netrin 1

Aliases:
NTN1L, NET1
MANE:
ENST00000173229.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Childhood onset dystonia, chorea or related movement disorder

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Monogenic hearing loss

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Structural eye disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Limb disorders

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • mirror movements 4

    0.66
  • cleft palate

    0.47
  • cleft lip

    0.47
  • orofacial cleft

    0.43
  • familial congenital mirror movements

    0.39
  • lacrimal apparatus disorder

    0.34
  • placental abruption

    0.29
  • multinodular goiter

    0.28
  • sweat gland disorder

    0.28
  • response to antihypertensive drug

    0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Netrin-1

Netrins control guidance of CNS commissural axons and peripheral motor axons. Its association with either DCC or some UNC5 receptors will lead to axon attraction or repulsion, respectively. Binding to UNC5C might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion (PubMed:28483977). Involved in dorsal root ganglion axon projection towards the spinal cord (PubMed:28483977). It also serves as a survival factor via its association with its receptors which prevent the initiation of apoptosis. Involved in tumorigenesis by regulating apoptosis (PubMed:15343335)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.