Catalog No.
YHB61901
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Met1-Phe451
Predicted molecular weight
54.67 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
O95363
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
PheRS, Phenylalanine--tRNA ligase, mitochondrial, Phenylalanyl-tRNA synthetase, FARS1, FARS2
Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy., PMID:40290421
Impact of pathogenic mutations on the refolding ability and stability of human mitochondrial Phenylalanyl-tRNA synthetase., PMID:40254257
A pseudo-homozygous missense variant and Alu-mediated exon 5 deletion in FARS2 causing spastic paraplegia 77., PMID:39342436
FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System., PMID:38362779
Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review., PMID:38166857
Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review., PMID:37833669
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease., PMID:37523899
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine., PMID:36603837
[Genetic analysis of a child with combined oxidative phosphorylation deficiency 14 due to variant of FARS2 gene]., PMID:36453966
Hedgehog pathway is negatively regulated during the development of Drosophila melanogaster PheRS-m (Drosophila homologs gene of human FARS2) mutants., PMID:36205831
Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2., PMID:36155627
Neuropathy-associated Fars2 deficiency affects neuronal development and potentiates neuronal apoptosis by impairing mitochondrial function., PMID:35794642
Genetic analyses identify pleiotropy and causality for blood proteins and highlight Wnt/β-catenin signalling in migraine., PMID:35546551
FARS2 deficiency in Drosophila reveals the developmental delay and seizure manifested by aberrant mitochondrial tRNA metabolism., PMID:34878141
Developmental Angiogenesis Requires the Mitochondrial Phenylalanyl-tRNA Synthetase., PMID:34540921
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations., PMID:33972171
Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing., PMID:33349918
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival., PMID:33168986
Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant., PMID:32597768
Breaking a single hydrogen bond in the mitochondrial tRNAPhe -PheRS complex leads to phenotypic pleiotropy of human disease., PMID:32115907
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found., PMID:32007496
A patient with juvenile-onset refractory status epilepticus caused by two novel compound heterozygous mutations in FARS2 gene., PMID:31329004
Biophysical characterization Of Alpers encephalopathy associated mutants of human mitochondrial phenylalanyl-tRNA synthetase., PMID:31241862
FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum., PMID:31106652
Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis., PMID:30872671
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance., PMID:30177229
New insights into the phenotype of FARS2 deficiency., PMID:29126765
Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2., PMID:28419689
FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy., PMID:28043061
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy., PMID:27549011
Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease., PMID:27095821
A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia., PMID:26553276
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency., PMID:24161539
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy., PMID:22833457
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes., PMID:22499341
Polymorphic markers associated with severe oxaliplatin-induced, chronic peripheral neuropathy in colon cancer patients., PMID:22020760
Promoter polymorphisms in two overlapping 6p25 genes implicate mitochondrial proteins in cognitive deficit in schizophrenia., PMID:21968932
For research use only. Not for human or drug use.
