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FEZF1

Chr 7q31.32

FEZ family zinc finger 1

MANE:
ENST00000442488.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Hypogonadotropic hypogonadism

    BIALLELIC, autosomal or pseudoautosomal
  • Hypogonadotropic hypogonadism (GMS)

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Kallmann syndrome

    0.69
  • hypogonadotropic hypogonadism

    0.37
  • type 2 diabetes mellitus

    0.31
  • diabetes mellitus

    0.31
  • smoking initiation

    0.28
  • attention deficit-hyperactivity disorder

    0.22
  • substance abuse

    0.22
  • hereditary disease

    0.19
  • risk-taking behaviour

    0.14
  • non-small cell lung carcinoma

    0.12

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

Protein function (UniProt)

Fez family zinc finger protein 1

Transcription repressor. Involved in the axonal projection and proper termination of olfactory sensory neurons (OSN). Plays a role in rostro-caudal patterning of the diencephalon and in prethalamic formation. Expression is required in OSN to cell-autonomously regulate OSN axon projections. Regulates non-cell-autonomously the layer formation of the olfactory bulb development and the interneurons. May be required for correct rostral migration of the interneuron progenitors (By similarity)

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.