Rabbit Polyclonal Antibody to HARS

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别名:EC 6.1.1.21; HRS; HisRS; histidine translase; histidine-tRNA ligase
应用:WB,ICC
反应种属:Human,Mouse
规格：50μl/100μl

Description
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).

Description

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).

Specification
Aliases	EC 6.1.1.21; HRS; HisRS; histidine translase; histidine-tRNA ligase
Entrez GeneID	3035;
Swissprot	P12081
WB Predicted band size	60kDa
Storage	Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.
Species Reactivity	Human,Mouse
Immunogen	Synthesized peptide derived from C-terminal of human HARS.
Formulation	Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.