LP188510-4
SARS2 gene
Active
Descriptions
Mutations in the SARS2 are associated with hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, and hyperuricemia. Belostotosky et al (2011) reported a homozygous SARS2 mutation, c.1169A>G (p.Asp390Gly), in several infants with a hyperuricemia pulmonary hypertension renal failure and alkalosis (HUPRA), a multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. PMID: 21255763 Source: Regenstrief LOINC
The SARS2 gene (seryl-tRNA synthetase 2, mitochondrial) [HGNC Gene ID:17697] is located on chromosome 19q13.2. This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009] [NCBI Gene ID:54938] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- SARS2 gene
- Part Display Name
- SARS2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-01-05
- Construct for LOINC Short Name
- SARS2
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | SARS2 基因 Synonyms: 丝氨酰-tRNA 合成酶 2, 线粒体; |
| es-ES | Spanish (Spain) | Gen SARS2 |
| it-IT | Italian (Italy) | SARS2, gene Synonyms: Gene SARS2 |
| tr-TR | Turkish (Turkey) | SARS2 geni |
| nl-NL | Dutch (Netherlands) | SARS2-gen Synonyms: SARS2 gen |
| fr-FR | French (France) | SARS2 gène |
| pl-PL | Polish (Poland) | SARS2 gen Synonyms: Gen SARS2 |
| el-GR | Greek (Greece) | Γονίδιο SARS2 Synonyms: Γονίδιο SARS2 |
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://