93704-5
Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel - Leukocytes
Active
74935-8 Palmitoyl protein thioesterase [Enzymatic activity/mass] in Leukocytes
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.
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Source: Wikipedia
, Wikipedia
Fully-Specified Name
- Component
- Palmitoyl protein thioesterase
- Property
- CCnt
- Time
- Pt
- System
- WBC
- Scale
- Qn
- Method
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.48 (MIN)
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 93704-5 | Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel - Leukocytes |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Palmitoyl-ProtThioest /Leukozyten |
| el-GR | Greek (Greece) | Θειοεστεράση πρωτεϊνών παλμιτοϋλίου: Synonyms: CCnt Θειοεστεράση πρωτεϊνών παλμιτοϋλίου Πρωτεΐνη |
| es-MX | Spanish (Mexico) | Palmitoil proteína tioesterasa: |
| es-ES | Spanish (Spain) | Palmitoil-protein-tioesterasa: Synonyms: Cuantitativo |
| fr-FR | French (France) | Palmitoyl protéine thioestérase: |
| fr-BE | French (Belgium) | Palmitoyl-protéine thioestérase: |
| fr-CA | French (Canada) | Palmitoyl-protéine thioestérase: |
| it-IT | Italian (Italy) | Palmitoil proteina tioesterasi: Synonyms: Chimica Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | palmitoylproteïnthioesterase: Synonyms: witte bloedcellen |
| pt-BR | Portuguese (Brazil) | Palmitoil tioesterase proteína: |
| ru-RU | Russian (Russian Federation) | Пальмитоил протеин тиоэстераза: Synonyms: Белок Каталитическое содержание Количественный Точка во времени; |
| tr-TR | Turkish (Turkey) | Palmitoil protein tiyoesteraz: Synonyms: WBC |
| zh-CN | Chinese (China) | 棕榈酰蛋白硫酯酶: Synonyms: PPT; |
Example Units
| Unit | Source |
|---|---|
| nmol/h/mg{protein} | Example UCUM Units |
76038-9 Tripeptidyl peptidase I [Enzymatic activity/mass] in Leukocytes
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
- CCnt
- Time
- Pt
- System
- WBC
- Scale
- Qn
- Method
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.50
- Last Updated
- Version 2.50 (ADD)
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 93704-5 | Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel - Leukocytes |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | Τριπεπτιδυλική πεπτιδάση I: Synonyms: CCnt I Τριπεπτιδυλική πεπτιδάση I |
| 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 Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | tripeptidylpeptidase I: Synonyms: witte bloedcellen |
| ru-RU | Russian (Russian Federation) | Трипептидил пептидаза I: Synonyms: Каталитическое содержание Количественный Точка во времени; |
| tr-TR | Turkish (Turkey) | Tripeptidil peptidaz I: Synonyms: WBC |
| zh-CN | Chinese (China) | 三肽基肽酶 I: Synonyms: I 型 Tripeptidyl peptidase I; |
Example Units
| Unit | Source |
|---|---|
| nmol/h/mg{protein} | Example UCUM Units |