78958-6
Cathepsin A [Enzymatic activity/mass] in Leukocytes
Active
Term Description
Cathepsin A enzyme activity in leukocytes is measured as part of a diagnostic work-up for galactosialidosis. Patients with galactosialidosis will have decreased activity of the protective protein as well as decreased neuraminidase and β-galactosidase activity in leukocytes (and/or fibroblasts). Sequencing of the CTSA gene is performed for detection of disease-causing mutations.
Part Description
LP199573-9 Cathepsin A
Cathepsin A (Lysosomal protective protein) [UniProt: P10619] is encoded by the CTSA gene [NCBI Gene ID: CTSA] and active in lysosomes where it acts as a protease as well as a protective protein. Patients deficient in cathepsin A due to mutations in the CTSA gene have symptoms of galactosialidosis, an autosomal recessive lysosomal storage disease characterized by combined deficiency of β-galactosidase and neuraminidase. PMID: 8725271 Normally, the protein forms a complex with neuraminidase 1 and elastin binding protein, forming the elastin binding protein receptor. Many CTSA mutations disrupt the protein structure of cathepsin A, impairing its ability to join with these other proteins. As a result, they are not functional or break down prematurely, which is thought to causes the signs and symptoms of galactosialidosis.[MedlinePlus Condition:
Source: Regenstrief LOINC
LOINC Names Get Info
- Fully-Specified Name
- Cathepsin A:
CCnt: Pt: WBC: Qn: - Long Common Name
- Cathepsin A [Enzymatic activity/mass] in Leukocytes
- Short Name
- Cathepsin A WBC-cCnt
- Display Name
- Cathepsin A (WBC) [Catalytic activity/Mass]
- Consumer Name Alpha Get Info
- Cathepsin A, White blood cells
Part Model Get Info
- Component
- Cathepsin A
LP199573-9
- Analyte
- Cathepsin A
LP199573-9
- Component Numerator
- Cathepsin A
LP199573-9
- Component Numerator Core
- Cathepsin A
LP199573-9
- Component Numerator Core Suffix
- NULL
- Component Denominator
- NULL
- Component Denominator Core
- NULL
- Component Denominator Core Suffix
- NULL
- Challenge
- NULL
- Adjustment
- NULL
- Count
- NULL
- Property
- CCnt
LP6790-2
- Time
- Pt
LP6960-1
- Time Core
- Pt
LP6960-1
- Time Modifier
- NULL
- System
- WBC
LP7720-8
- System Core
- WBC
LP7720-8
- Super System
- NULL
- Scale
- Qn
LP7753-9
- Method
- NULL
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.54 (ADD)
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| cs-CZ | Czech (Czechia) | Katepsin A: |
| el-GR | Greek (Greece) | Καθεψίνη A: Synonyms: A CCnt CHEM Pt Qn Αριθμός λευκών αιμοσφαιρίων Καθεψίνη A |
| es-ES | Spanish (Spain) | Catepsina A: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Catepsina A: |
| fr-FR | French (France) | Cathepsine A: |
| it-IT | Italian (Italy) | Catepsina A: Synonyms: Chimica Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | cathepsine A: Synonyms: witte bloedcellen |
| pl-PL | Polish (Poland) | Katepsyna A: |
| tr-TR | Turkish (Turkey) | Katepsin A: Synonyms: WBC |
| zh-CN | Chinese (China) | 组织蛋白酶 A: Synonyms: A 型 CTA; |
Example Units
| Unit | Source |
|---|---|
| nmol/h/mg{protein} | Example UCUM Units |
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LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://