Nudix Hydrolase 2

Alternative Names

  • NUDT2
  • Nucleoside Diphosphate-Linked Moiety X Motif 2
  • NUDIX Motif 2
  • AP4A Hydrolase 1
  • APAH1
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OMIM Number

602852

NCBI Gene ID

318

Uniprot ID

P50583

Length

14,131 bases

No. of Exons

5

Protein Name

Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]

Molecular Mass

16829 Da

Amino Acid Count

147

Genomic Location

chr9:34,329,569-34,343,699

Gene Map Locus
9p13.3

Description

The NUDT2 gene encodes the NUDIX Hydrolase 2 enzyme, also known as AP4A hydrolase. This protein possesses a modification of the MutT sequence motif and hence belongs to the MutT family of nucleotide pyrophosphatases. These enzymes are a subset of the larger NUDIX family of nucleotide hydrolases that function to eliminate toxic nucleotide metabolites from the cell. The specific function of NUDT2 is to asymmetrically hydrolyze AP4A resulting in AMP and ATP, thereby maintaining the intracellular level of AP4A. It is also suggested that NUDT2 may be a candidate tumor suppressor gene.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001161.5:c.34C>TSaudi ArabiaNC_000009.12:g.34339073C>TPathogenicPathogenicIntellectual Developmental Disorder with or without Peripheral NeuropathyNM_001161.5:c.34C>T; NP_001152.1:p.Arg12Ter1481199521686822
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