LP188500-5

KARS gene

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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

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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://loinc.org/license for the full LOINC copyright and license.