79467-7
Purine nucleoside phosphorylase [Enzymatic activity/volume] in DBS
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Part Description
LP15841-7 Purine nucleoside phosphorylase
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
Fully-Specified Name
- Component
- Purine nucleoside phosphorylase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Long Common Name
- Purine nucleoside phosphorylase [Enzymatic activity/volume] in DBS
- Short Name
- PNP DBS-cCnc
- Display Name
- Purine nucleoside phosphorylase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Purine nucleoside phosphorylase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.61 (MIN)
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
el-GR | Greek (Greece) | Φωσφορυλάση πουρινικών νουκλεοσιδίων: Synonyms: CCnc Πουρίνη Φωσφορυλάση Φωσφορυλάση πουρινικών νουκλεοσιδίων |
es-ES | Spanish (Spain) | Purin nucleósido fosforilasa: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Purina nucleósido fosforilasa: |
et-EE | Estonian (Estonia) | Puriini nukleosiidi fosforülaas: Synonyms: Juhuslik Kvantitatiivne Veri |
fr-CA | French (Canada) | Purine-nucléoside phosphorylase: |
fr-FR | French (France) | Purine nucléoside phosphorylase: |
fr-BE | French (Belgium) | Purine-nucléoside phosphorylase: |
it-IT | Italian (Italy) | Purina nucleoside fosforilasi: Synonyms: Chimica Concentrazione Catalitica PNPasi Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | purinenucleosidefosforylase: |
pl-PL | Polish (Poland) | Fosforylaza nukleozydów purynowych: |
ru-RU | Russian (Russian Federation) | Пуриновых нуклеозидов фосфорилаза: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
tr-TR | Turkish (Turkey) | Pürin nukleozid fosforilaz: |
zh-CN | Chinese (China) | 嘌呤核苷酸磷酸化酶: Synonyms: PNP 催化浓度(单位体积); |
Example Units
Unit | Source |
---|---|
nmol/h/mL | Example UCUM Units |
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