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.Raben N., Nucleic Acids Res.
20:1075-1081(1992).
Tsui F.W.L., Nucleic Acids Res.
15:3349-3367(1987).
Tsui H.W., Gene 131:201-208(1993).
Applications:Suitable for use in Immunofluorescence and Western Blot.
Other applications not tested.
Recommended Dilution:Immunofluorescence: 1:100-1:500Western Blot: 1:500-1:3000Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：100ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.4, 150mM sodium chloride, 0.02% sodium azide, 50% glycerol.
Specificity：Human Mouse
Isotype：IgG
Calc Applications Abbrev：IF WB
Calc Crossreactivity：Hu Mo
Immunogen：Synthetic peptide corresponding to C-terminal of human HARS.
