Nudix Hydrolase 15

Alternative Names

  • NUDT15
  • Nucleoside Diphosphate-Linked Moiety X Motif 15
  • Nudix Motif 15
  • MutT Homolog 2
  • MTH2
Back to search Result
OMIM Number

615792

NCBI Gene ID

55270

Uniprot ID

Q9NV35

Length

15,176 bases

No. of Exons

5

No. of isoforms

1

Protein Name

Nucleotide triphosphate diphosphatase NUDT15

Molecular Mass

18609 Da

Amino Acid Count

164

Genomic Location

chr13:48,037,567-48,052,742

Gene Map Locus
13q14.2

Description

This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_018283.4:c.415C>TIraq; United Arab Emir...NC_000013.11:g.48045719C>TDrug ResponseDrug ResponseThiopurines, Poor Metabolism of, 2NG_047021.1:g.13153C>T; NM_018283.4:c.415C>T; NP_060753.1:p.Arg139Cys116855232225201
© CAGS 2024. All rights reserved.