LP99728-5
RPS19 gene
Active
Description
The RPS19 gene (ribosomal protein S19) [HGNC Gene ID:10402] is located on chromosome 19q13.2. Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6223] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- RPS19 gene
- Part Display Name
- RPS19 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2010-03-10
- Construct for LOINC Short Name
- RPS19 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | RPS19 基因 Synonyms: DBA; |
| et-EE | Estonian (Estonia) | RPS19 geen |
| es-ES | Spanish (Spain) | Gen RPS19 |
| it-IT | Italian (Italy) | RPS19, gene Synonyms: Gene RPS19 |
| tr-TR | Turkish (Turkey) | RPS19 geni |
| ru-RU | Russian (Russian Federation) | RPS19 ген |
| nl-NL | Dutch (Netherlands) | RPS19-gen Synonyms: RPS19 gen |
| fr-FR | French (France) | RPS19 gène |
| pl-PL | Polish (Poland) | RPS19 gen Synonyms: Gen RPS19 |
| el-GR | Greek (Greece) | Γονίδιο RPS19 Synonyms: Γονίδιο RPS19 |
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://