1-832-868-1888
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Catalog Number: |
33673 |
| other_names: | EC 6.1.1.21; HRS; HisRS; histidine translase; histidine-tRNA ligase |
Amount: |
100μg |
| calculated_mw: | |
| host_species: | Rabbit |
Price: |
$319 |
Swiss-Prot No: |
Swiss-Prot: P12081 |
Form of Antibody: |
Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol. |
Storage/Stability: |
|
Immunogen: |
Synthesized peptide derived from C-terminal of human HARS. |
Purification: |
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. |
Specificity/Sensitivity: |
The antibody detects endogenous levels of total HARS protein. |
Applications: |
WB IF |
Background: |
Defects in HARS are a cause of Usher syndrome type 3B (USH3B). USH3B is a syndrome characterized by progressive vision and hearing loss during early childhood. Some patients have the so-called 'Charles Bonnet syndrome,' involving decreased visual acuity and vivid visual hallucinations. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life. Belongs to the class-II aminoacyl-tRNA synthetase family. |
References: |
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appl_detail: |
Western blotting: 1:500~1:3000 |
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