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ZFYVE26

Chr 14q24.1

zinc finger FYVE-type containing 26

Aliases:
KIAA0321
MANE:
ENST00000347230.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult onset hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal
  • Adult onset leukodystrophy

    BIALLELIC, autosomal or pseudoautosomal
  • Childhood onset hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary ataxia with onset in adulthood

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary neuropathy

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary neuropathy or pain disorder

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • hereditary spastic paraplegia 15

    0.80
  • Autosomal recessive spastic paraplegia type 15

    0.71
  • Spastic paraplegia

    0.66
  • hereditary spastic paraplegia

    0.54
  • hereditary disease

    0.51
  • Abnormal central motor function

    0.36
  • Tip-toe gait

    0.36
  • Intellectual disability

    0.34
  • Atypical behavior

    0.34
  • congenital myopathy

    0.34

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

Protein function (UniProt)

Zinc finger FYVE domain-containing protein 26

Phosphatidylinositol 3-phosphate-binding protein required for the abscission step in cytokinesis: recruited to the midbody during cytokinesis and acts as a regulator of abscission. May also be required for efficient homologous recombination DNA double-strand break repair

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.