LP435233-4
TCIRG1 gene targeted mutation
Active
Description
This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017] Source: 3M Health Information Systems,
Basic Part Properties
- Part Name
- TCIRG1 gene targeted mutation
- Part Display Name
- TCIRG1 gene targeted mutation analysis
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2023-04-24
- Construct for LOINC Short Name
- TCIRG1 Mut Anl
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP435233-4
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Análisis de mutación dirigida al gen TCIRG1 |
| zh-CN | Chinese (China) | TCIRG1 基因靶向突变 |
| nl-NL | Dutch (Netherlands) | TCIRG1-gen doelgerichte mutatie |
| it-IT | Italian (Italy) | Gene TCIRG1, mutazione mirata Synonyms: Analisi di mutazione mirata del gene TCIRG1 |
LOINC Copyright
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