Recombinant Human ADCK3 protein (ab163461)
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Overview
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Product nameRecombinant Human ADCK3 protein
See all ADCK3 proteins and peptides -
Protein lengthProtein fragment
Description
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NatureRecombinant
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SourceWheat germ
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Amino Acid Sequence
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SpeciesHuman
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SequenceMAAILGDTIMVAKGLVKLTQAAVETHLQHLGIGGELIMAARALQSTAVEQ IGMFLGKVQGQDKHEEYFAENFGGPEGEFHFSVPHAAGASTDFSSASAPD
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Amino acids1 to 100
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Tagsproprietary tag N-Terminus
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Specifications
Our Abpromise guarantee covers the use of ab163461 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Applications
Western blot
ELISA
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FormLiquid
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Additional notesProtein concentration is above or equal to 0.05 mg/ml.
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Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.31% Glutathione, 0.79% Tris HCl
General Info
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Alternative names
- aarF domain containing protein kinase 3
- aarF domain-containing protein kinase 3
- ADCK 3
see all -
FunctionMay be a chaperone-like protein essential for the proper conformation and functioning of protein complexes in the respiratory chain.
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Tissue specificityUbiquitously expressed with a relatively greater abundance in heart and skeletal muscle.
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Involvement in diseaseDefects in ADCK3 are a cause of coenzyme Q10 deficiency (CoQ10 deficiency) [MIM:607426]. CoQ10 deficiency is an autosomal recessive disorder with variable manifestations. It can be associated with three main clinical phenotypes: a predominantly myopathic form with central nervous system involvement, an infantile encephalomyopathy with renal dysfunction and an ataxic form with cerebellar atrophy.
Defects in ADCK3 are the cause of spinocerebellar ataxia autosomal recessive type 9 (SCAR9) [MIM:612016]; also known as autosomal recessive cerebellar ataxia type 2 (ARCA2). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR9 is an autosomal recessive form characterized by gait ataxia and cerebellar atrophy with slow progression and few associated features. Patients can manifest brisk tendon reflexes and Hoffmann sign, mild psychomotor retardation, mild axonal degeneration of the sural nerve, exercise intolerance and elevated serum lactate. -
Sequence similaritiesBelongs to the protein kinase superfamily. ADCK protein kinase family.
Contains 1 protein kinase domain. -
Cellular localizationMitochondrion.
- Information by UniProt
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References
ab163461 has not yet been referenced specifically in any publications.