Product Details

Purity

>85% (SDS-PAGE)

Target Names

FARS2

Uniprot No.

O95363

Alternative Names

dJ236A3.1 (phenylalanine tRNA synthetase) ; dJ520B18.2 (FARS1 (phenylalanine tRNA synthetase)) ; FARS1 ; Fars2; HSPC320; Phenylalanine translase; Phenylalanine tRNA ligase 2; mitochondrial ; Phenylalanine tRNA ligase; Phenylalanine tRNA synthetase 1 (mitochondrial); Phenylalanine tRNA synthetase 2 (mitochondrial) ; Phenylalanine--tRNA ligase; Phenylalanyl tRNA synthetase 2; Phenylalanyl-tRNA synthetase; mitochondrial; PheRS; SYFM_HUMAN

Species

Homo sapiens (Human)

Expression Region

Protein Length

Full Length of Mature Protein

Tag Info

Tag type will be determined during the manufacturing process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.

Form

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.

Buffer before Lyophilization

Tris/PBS-based buffer, 6% Trehalose, pH 8.0

Reconstitution

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Lead Time

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Datasheet

Please contact us to get it.

Target Background

Function

Is responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, also catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe), thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins.

Gene References into Functions

Based on the phenotypic data of previously reported subjects and the two subjects reported here, we conclude that FARS2 deficiency can be associated with two phenotypes: (i) an epileptic phenotype, and (ii) a spastic paraplegia phenotype. PMID: 29126765
in patients with drug-resistant infantile spasm syndrome, associated with focal seizures, mild metabolic changes, and cerebral atrophy with volume loss of white matter on MRI, mutations in FARS2 should be considered. PMID: 27549011
Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2 have been described. PMID: 28419689
A newly identified missense mutation in FARS2 causes autosomal-recessive spastic paraplegia. PMID: 26553276
this study expands the phenotypic spectrum of FARS2 related disease and emphasizes intragenic deletion in the list of causative mutations. PMID: 25851414
the three FARS2 mutations directly impair aminoacylation function and stability of mtPheRS, leading to a decrease in overall tRNA charging capacity. PMID: 22833457
Two phenylalanyl-tRNA synthetase variants Ser57Cys and Asp280Ser both display wild-type aminoacylation activity and stability with respect to their free energies of unfolding, but are less stable at low hydrogen-ion concentration (pH). PMID: 21601574
The recombinant human enzyme has been purified to homogeneity and crystallized in complex with phenylalanine and ATP. PMID: 17768348
Formation of the PheRS-tRNAPhe complex in human mitochondria must be accompanied by considerable rearrangement of the anticodon binding domain upon tRNA binding. PMID: 18611382
Mitochondrial and cytoplasmic phenylalanyl-tRNA synthetases (HsmtPheRS and HsctPheRS, respectively) catalyze direct attachment of m-Tyr to tRNA(Phe). PMID: 19549855
these results indicate that conformational flexibility of the two functional modules in mtPheRS is essential for its phenylalanylation activity. PMID: 19737557

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Involvement in disease

Combined oxidative phosphorylation deficiency 14 (COXPD14); Spastic paraplegia 77, autosomal recessive (SPG77)

Subcellular Location

Mitochondrion matrix. Mitochondrion.

Protein Families

Class-II aminoacyl-tRNA synthetase family

Database Links

HGNC: 21062

OMIM: 611592

KEGG: hsa:10667

STRING: 9606.ENSP00000274680

UniGene: Hs.484547

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Recombinant Human Phenylalanine--tRNA ligase, mitochondrial (FARS2)

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