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NDNF

Chr 4q27

neuron derived neurotrophic factor

Aliases:
FLJ23191
MANE:
ENST00000379692.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Hypogonadotropic hypogonadism (GMS)

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • hypogonadotropic hypogonadism 25 with anosmia

    0.62
  • Kallmann syndrome

    0.60
  • Abnormality of the skeletal system

    0.38
  • neurodegenerative disease

    0.37
  • facial morphology

    0.31
  • acute tonsillitis

    0.29
  • ankylosing spondylitis

    0.19
  • syphilis

    0.05
  • lung carcinoma

    0.05
  • Miyoshi myopathy

    0.05

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

Protein function (UniProt)

Protein NDNF

Secretory protein that plays a role in various cellular processes (PubMed:20969804, PubMed:24706764, PubMed:31883645). Acts as a chemorepellent acting on gonadotropin-releasing hormone (GnRH) expressing neurons regulating their migration to the hypothalamus (PubMed:31883645). Also promotes neuron migration, growth and survival as well as neurite outgrowth and is involved in the development of the olfactory system (PubMed:20969804, PubMed:31883645). May also act through the regulation of growth factors activity and downstream signaling (PubMed:31883645). Also regulates extracellular matrix assembly and cell adhesiveness (By similarity). Promotes endothelial cell survival, vessel formation and plays an important role in the process of revascularization through NOS3-dependent mechanisms (PubMed:24706764)

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.