74365-8
Palmitoyl protein thioesterase [Enzymatic activity/mass] in Fibroblast
Active
Part Description
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
- Fibroblasts
- Scale
- Qn
- Method
Additional Names
- Long Common Name
- Palmitoyl protein thioesterase [Enzymatic activity/mass] in Fibroblast
- Short Name
- PPT Fib-cCnt
- Display Name
- Palmitoyl protein thioesterase (Fibroblast) [Catalytic activity/Mass]
- Consumer Name Alpha Get Info
- Palmitoyl protein thioesterase, Fibroblast
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.46
- Last Updated
- Version 2.46 (MIN)
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
93703-7 | Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel - Fibroblast |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-AT | German (Austria) | Synonyms: Palmitoyl-Protein-Thioesterase /Fibroblasten |
el-GR | Greek (Greece) | Θειοεστεράση πρωτεϊνών παλμιτοϋλίου: Synonyms: CCnt Θειοεστεράση πρωτεϊνών παλμιτοϋλίου Πρωτεΐνη |
es-ES | Spanish (Spain) | Palmitoil-protein-tioesterasa: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Palmitoil proteína tioesterasa: |
fr-CA | French (Canada) | Palmitoyl-protéine thioestérase: |
fr-FR | French (France) | Palmitoyl protéine thioestérase: |
fr-BE | French (Belgium) | Palmitoyl-protéine thioestérase: |
it-IT | Italian (Italy) | Palmitoil proteina tioesterasi: Synonyms: Chimica Contenuto Catalitico Fibroblasto Punto nel tempo (episodio) |
nl-NL | Dutch (Netherlands) | palmitoylproteïnthioesterase: |
pt-BR | Portuguese (Brazil) | Palmitoil proteina tioesterase: |
ru-RU | Russian (Russian Federation) | Пальмитоил протеин тиоэстераза: Synonyms: Белок Каталитическое содержание Количественный 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 |
---|---|
nmol/h/mg{protein} | Example UCUM Units |
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