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- Table of Contents
Facts about Purine nucleoside phosphorylase.
Human | |
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Gene Name: | PNP |
Uniprot: | P00491 |
Entrez: | 4860 |
Belongs to: |
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PNP/MTAP phosphorylase family |
EC 2.4.2.1; FLJ94043; FLJ97288; Inosine phosphorylase; MGC117396; MGC125915; MGC125916; NPFLJ97312; nucleoside phosphorylase; PNP; PRO1837; PUNP; purine nucleoside phosphorylase; purine-nucleoside:orthophosphate ribosyltransferase
Mass (kDA):
32.118 kDA
Human | |
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Location: | 14q11.2 |
Sequence: | 14; NC_000014.9 (20469406..20477089) |
Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with hereditary non- spherocytic hemolytic anemia of unknown etiology.
Cytoplasm, cytoskeleton. Cytoplasm.
PMID: 6087295 by Williams S.R., et al. Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization.
PMID: 3029074 by Williams S.R., et al. A human purine nucleoside phosphorylase deficiency caused by a single base change.