LP157346-0
Tripeptidyl peptidase I
Active
Description
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
Basic Part Properties
- Part Display Name
- Tripeptidyl peptidase I
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2012-09-18
- Construct for LOINC Short Name
- Tripeptidyl peptidase I
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP157346-0
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tripeptidil peptidasa I |
| it-IT | Italian (Italy) | Tripeptidil-peptidasi I |
| tr-TR | Turkish (Turkey) | Tripeptidil peptidaz I |
| ru-RU | Russian (Russian Federation) | Трипептидил пептидаза I |
| nl-NL | Dutch (Netherlands) | tripeptidylpeptidase I |
| zh-CN | Chinese (China) | 三肽基肽酶 I Synonyms: Tripeptidyl peptidase I; |
LOINC Copyright
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