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GenoLensGenoLens

NAPRT

Chr 8q24.3

nicotinate phosphoribosyltransferase

Aliases:
PP3856
MANE:
ENST00000449291.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Haematological malignancies cancer susceptibility

    MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Disease associations (Open Targets)

  • schizophrenia

    0.15
  • cancer

    0.10
  • neoplasm

    0.09
  • frozen shoulder

    0.08
  • colorectal carcinoma

    0.08
  • Miyoshi myopathy

    0.07
  • Oral ulcer

    0.07
  • insomnia

    0.07
  • renal cell carcinoma

    0.04
  • glioblastoma

    0.03

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

Protein function (UniProt)

Nicotinate phosphoribosyltransferase

Catalyzes the first step in the biosynthesis of NAD from nicotinic acid, the ATP-dependent synthesis of beta-nicotinate D-ribonucleotide from nicotinate and 5-phospho-D-ribose 1-phosphate (PubMed:17604275, PubMed:21742010, PubMed:26042198). Helps prevent cellular oxidative stress via its role in NAD biosynthesis (PubMed:17604275)

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.