LP188495-8

FARS2 gene

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Descriptions

Mutations in the FARS2 gene are associated with combined oxidative phosphorylation deficiency 14 (COXPD14), a severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis.[MedlinePlus Gene: FARS2] Source: Regenstrief LOINC

The FARS2 gene (phenylalanyl-tRNA synthetase 2, mitochondrial) [HGNC Gene ID:21062] is located on chromosome 6p25.1. Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a phenylalanine-tRNA synthetase (PheRS) localized to the mitochondrion which consists of a single polypeptide chain, unlike the (alpha-beta)2 structure of the prokaryotic and eukaryotic cytoplasmic forms of PheRS. Structure analysis and catalytic properties indicate mitochondrial PheRSs may constitute a class of PheRS distinct from the enzymes found in prokaryotes and in the eukaryotic cytoplasm. [provided by RefSeq, Jul 2008] [NCBI Gene ID:10667] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name

FARS2 gene

Part Display Name

FARS2 gene

Part Type

Component (Describes the core component or analyte measured)

Created On

2015-01-05

Construct for LOINC Short Name

FARS2

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CodeSystem lookup

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