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.
Source: Regenstrief LOINC
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
Fully-Specified Name
- Component
- Cathepsin A
- Property
- CCnt
- Time
- Pt
- System
- WBC
- Scale
- Qn
- Method
Additional Names
- Short Name
- Cathepsin A WBC-cCnt
- Display Name
- Cathepsin A (WBC) [Catalytic activity/Mass]
- Consumer Name Alpha Get Info
- Cathepsin A, White blood cells
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.54
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
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 |
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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