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MYT1

Chr 20q13.33

myelin transcription factor 1

Aliases:
MTF1, MYTI, ZC2HC4A, NZF2, ZC2H2C1
MANE:
ENST00000328439.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • neurodegenerative disease

    0.44
  • restless legs syndrome

    0.42
  • movement disorder

    0.33
  • autism spectrum disorder

    0.33
  • Abnormal pupillary function

    0.31
  • allergic disease

    0.27
  • Abnormal thrombosis

    0.27
  • respiratory system disorder

    0.27
  • Intellectual disability

    0.27
  • coronary atherosclerosis

    0.27

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

Protein function (UniProt)

Myelin transcription factor 1

Binds to the promoter region of genes encoding proteolipid proteins of the central nervous system. May play a role in the development of neurons and oligodendroglia in the CNS. May regulate a critical transition point in oligodendrocyte lineage development by modulating oligodendrocyte progenitor proliferation relative to terminal differentiation and up-regulation of myelin gene transcription

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.