72498-9
Tripeptidyl peptidase I [Enzymatic activity/volume] in DBS
Active
Part Description
LP157346-0 Tripeptidyl peptidase I
Tripeptidyl peptidase 1 is an enzyme that sequentially removes tripeptides from the N termini of proteins. It is encoded by the TPP1 gene, located on chromosome 11p15.4. Mutations in TPP1 cause abnormal protein folding, which results in defective enzyme activity and a disorder known as neuronal ceroid lipofuscinosis-2 (CLN2), or Jansky-Bielschowsky disease. CLN2 is a progressive neurodegenerative disorder characterized by dementia, seizures, and visual failure. [OMIM: 204500]
Source: Regenstrief LOINC, OMIM: 204500
Fully-Specified Name
- Component
- Tripeptidyl peptidase I
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tripeptidyl peptidase I DBS-cCnc
- Display Name
- Tripeptidyl peptidase I (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Tripeptidyl Peptidase I, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.42
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
101348-1 | Palmitoyl protein thioesterase and Tripeptidyl peptidase I panel - DBS |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Tripeptidil peptidasa I: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Tripeptidil peptidasa I: |
fr-FR | French (France) | Tripeptidyl peptidase I: |
it-IT | Italian (Italy) | Tripeptidil-peptidasi I: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | tripeptidylpeptidase I: |
pt-BR | Portuguese (Brazil) | Tripeptidil peptidase I: |
ru-RU | Russian (Russian Federation) | Трипептидил пептидаза I: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
tr-TR | Turkish (Turkey) | Tripeptidil peptidaz I: |
zh-CN | Chinese (China) | 三肽基肽酶 I: Synonyms: I 型 Tripeptidyl peptidase I; |
Example Units
Unit | Source |
---|---|
pmol/h/mL | Example UCUM Units |
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LOINC Copyright
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