101348-1
Palmitoyl protein thioesterase and Tripeptidyl peptidase I panel - DBS
Active
59246-9 Palmitoyl protein thioesterase [Enzymatic activity/volume] in DBS
Part Descriptions
LP32455-5 Palmitoyl protein thioesterase
Palmitoyl protein thioesterases are enzymes (EC 3.1.2.22) that remove thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation.
Neuronal ceroid lipofuscinoses (NCL) represent a group of encephalopathies that occur in 1 in 12,500 children. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. The most common mutation results in intracellular accumulation of the polypeptide and undetectable enzyme activity in the brain. Direct sequencing of cDNAs derived from brain RNA of INCL patients has shown a mis-sense transversion of A to T at nucleotide position 364, which results in substitution of Trp for Arg at position 122 in the protein - Arg 122 is immediately adjacent to a lipase consensus sequence that contains the putative active site Ser of PPT. The occurrence of this and two other independent mutations in the PPT gene strongly suggests that defects in this gene cause INCL.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Fully-Specified Name
- Component
- Palmitoyl protein thioesterase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- PPT DBS-cCnc
- Display Name
- Palmitoyl protein thioesterase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Palmitoyl protein thioesterase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.70
- 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-MX | Spanish (Mexico) | Palmitoil proteína tioesterasa: |
| es-ES | Spanish (Spain) | Palmitoil-protein-tioesterasa: Synonyms: Cuantitativo |
| fr-FR | French (France) | Palmitoyl protéine thioestérase: |
| fr-CA | French (Canada) | Palmitoyl-protéine thioestérase: |
| fr-BE | French (Belgium) | Palmitoyl-protéine thioestérase: |
| it-IT | Italian (Italy) | Palmitoil proteina tioesterasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | palmitoylproteïnthioesterase: |
| pt-BR | Portuguese (Brazil) | Palmitoil Proteína Tioesterase: |
| ru-RU | Russian (Russian Federation) | Пальмитоил протеин тиоэстераза: Synonyms: Белок Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Palmitoil protein tiyoesteraz: |
| zh-CN | Chinese (China) | 棕榈酰蛋白硫酯酶: Synonyms: PPT; |
Example Units
| Unit | Source |
|---|---|
| pmol/h/mL | Example UCUM Units |
72498-9 Tripeptidyl peptidase I [Enzymatic activity/volume] in DBS
Part Descriptions
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-MX | Spanish (Mexico) | Tripeptidil peptidasa I: |
| es-ES | Spanish (Spain) | Tripeptidil peptidasa I: Synonyms: Cuantitativo |
| 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 |