RARS2 Antibody, HRP conjugated

Code CSB-PA732918LB01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) RARS2 Polyclonal antibody
Uniprot No.
Target Names
RARS2
Alternative Names
Probable arginine--tRNA ligase, mitochondrial (EC 6.1.1.19) (Arginyl-tRNA synthetase) (ArgRS), RARS2, RARSL
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Probable arginine--tRNA ligase, mitochondrial protein (230-578aa)
Immunogen Species
Homo sapiens (Human)
Conjugate
HRP
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Tested Applications
ELISA
Protocols
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Gene References into Functions
  1. Characteristic neuroradiological abnormalities of PCH6 such as vermis and cerebellar hypoplasia and progressive pontocerebellar atrophy may be missing in patients with RARS2 mutations PMID: 27769281
  2. RARS2 gene mutations can cause a metabolic neurodegenerative disease manifesting primarily as early onset epileptic encephalopathies with post-natal microcephaly, without pontocerebellar hypoplasia. PMID: 26970947
  3. Mutations in the RARS2 promoter are likely to represent a new causal mechanism of pontocerebellar hypoplasia. PMID: 25809939
  4. Molecular investigations of RARS2 disclosed the c.25A>G/p.I9V and the c.1586+3A>T in family A. PMID: 22569581
  5. mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2, may have a role in pontocerebellar hypoplasia type 6 [case report] PMID: 22086604

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Involvement in disease
Pontocerebellar hypoplasia 6 (PCH6)
Subcellular Location
Mitochondrion matrix.
Protein Families
Class-I aminoacyl-tRNA synthetase family
Database Links

HGNC: 21406

OMIM: 611523

KEGG: hsa:57038

STRING: 9606.ENSP00000358549

UniGene: Hs.485910

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