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NUDT6

Chr 4q28.1

nudix hydrolase 6

Aliases:
gfg-1, gfg, FGF2AS, FGF-AS
MANE:
ENST00000304430.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Osteogenesis imperfecta

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Abnormality of the skeletal system

    0.44
  • atrial fibrillation

    0.40
  • neurodegenerative disease

    0.40
  • type 2 diabetes mellitus

    0.16
  • arthropathy

    0.13
  • concussion

    0.11
  • diabetes mellitus

    0.11
  • myasthenia gravis

    0.10
  • triple-A syndrome

    0.04
  • ovarian dysfunction

    0.02

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

Protein function (UniProt)

Nudix hydrolase 6

Mediates the hydrolysis of some nucleoside diphosphate derivatives, such as NADH and FAD (in vitro) (PubMed:37343711). May contribute to the regulation of cell proliferation (PubMed:11266510)

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.