Pyridoxamine 5-Prime-Phosphate Oxidase

Alternative Names

  • PNPO
  • Pyridoxamine-Phosphate Oxidase
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OMIM Number

603287

NCBI Gene ID

55163

Uniprot ID

Q9NVS9

Length

7,785 bases

No. of Exons

8

No. of isoforms

4

Protein Name

Pyridoxine-5'-phosphate oxidase

Molecular Mass

29988 Da

Amino Acid Count

261

Genomic Location

chr17:47,941,523-47,949,307

Gene Map Locus
17q21.32

Description

The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_018129.4:c.674G>TUnited Arab EmiratesNC_000017.11:g.47946670G>TPathogenicPyridoxamine 5-Prime-Phosphate Oxidase DeficiencyNG_008744.1:g.10148G>T; NM_018129.4:c.674G>T; NP_060599.1:p.Arg225Leu550423482223153
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