LP188500-5
KARS gene
Active
Descriptions
Mutations in the KARS gene are associated with Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB), a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy of the peroneal muscles and distal muscles of the arms.[GHR gene: KARS] Mutations in this gene are also associated with autosomal recessive deafness-89.[OMIM:613916] Source: Regenstrief LOINC
The KARS gene (lysyl-tRNA synthetase) [HGNC Gene ID:6215] is located on chromosome 16q23.1. Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3735] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- KARS gene
- Part Display Name
- KARS gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-01-05
- Construct for LOINC Short Name
- KARS
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP188500-5
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | KARS 基因 Synonyms: 赖氨酰-tRNA 合成酶; |
| it-IT | Italian (Italy) | KARS, gene |
| tr-TR | Turkish (Turkey) | KARS geni |
| es-ES | Spanish (Spain) | Gen KARS |
| nl-NL | Dutch (Netherlands) | KARS-gen Synonyms: KARS gen |
| el-GR | Greek (Greece) | Γονίδιο KARS Synonyms: Γονίδιο KARS |
LOINC Copyright
Copyright © 2025 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://