LP189388-4
MRPS22 gene
Active
Description
The MRPS22 (mitochondrial ribosomal protein S22) [HGNC Gene ID:14508] is located on chromosome 3 at position q23. Mutations in MRPS22 are known to cause combined oxidative phosphorylation deficiency 5 (COXPD5), a mitochondrial disease resulting in severe metabolic acidosis, edema, hypertrophic cardiomyopathy, tubulopathy, and hypotonia.[UniProt: P82650] Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- MRPS22 gene
- Part Display Name
- MRPS22 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-02-05
- Construct for LOINC Short Name
- MRPS22
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | MRPS22 基因 Synonyms: 线粒体核糖体蛋白 S22; |
| es-ES | Spanish (Spain) | Gen MRPS22 |
| it-IT | Italian (Italy) | MRPS22, gene Synonyms: Gene MRPS22 |
| tr-TR | Turkish (Turkey) | MRPS22 geni |
| nl-NL | Dutch (Netherlands) | MRPS22-gen Synonyms: MRPS22 gen |
| fr-FR | French (France) | MRPS22 gène |
| pl-PL | Polish (Poland) | MRPS22 gen Synonyms: Gen MRPS22 |
| el-GR | Greek (Greece) | Γονίδιο MRPS22 Synonyms: Γονίδιο MRPS22 |
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://