LP15841-7
Purine nucleoside phosphorylase
Active
Description
Purine nucleoside phosphorylase (also known as PNPase) is an enzyme (EC 2.4.2.1) involved in purine metabolism. PNP metabolizes adenosine into adenine, inosine into hypoxanthine, and guanosine into guanine, in each case creating ribose phosphate. NP encodes the enzyme purine nucleoside phosphorylase that, together with adenosine deaminase (ADA), serves a key role in purine catabolism, referred to as the salvage pathway. Mutations in ADA lead to an accumulation of (d)ATP, which inhibits ribonucleotide reductase, leading to a deficiency in (d)CTPs and (d)TTPs, which, in turn, induces apoptosis in T-lymphocytes and B-lymphocytes, leading to severe combined immunodeficiency (SCID).
PNP-deficient patients will have an immunodeficiency problem. It affects only T-cells; B-cells are unaffected by the deficiency.
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Source: Wikipedia, Wikipedia
Basic Part Properties
- Part Display Name
- Purine nucleoside phosphorylase
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- PNP
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 嘌呤核苷酸磷酸化酶 Synonyms: PNP |
| fr-CA | French (Canada) | Purine-nucléoside phosphorylase |
| et-EE | Estonian (Estonia) | Puriini nukleosiidi fosforülaas |
| es-ES | Spanish (Spain) | Purin nucleósido fosforilasa |
| it-IT | Italian (Italy) | Purina nucleoside fosforilasi Synonyms: PNPasi |
| tr-TR | Turkish (Turkey) | Pürin nukleozid fosforilaz |
| ru-RU | Russian (Russian Federation) | Пуриновых нуклеозидов фосфорилаза |
| nl-NL | Dutch (Netherlands) | purinenucleosidefosforylase |
| fr-BE | French (Belgium) | Purine-nucléoside phosphorylase |
| pl-PL | Polish (Poland) | Fosforylaza nukleozydów purynowych |
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