产品概述
DFNA5 Rabbit Polyclonal Antibody
Rabbit Polyclonal Antibody
Rabbit
WB,ELISA
Human,Rat
产品性能
Unconjugated
Unmodified
IgG
Polyclonal
Liquid
Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Affinity purification
免疫原
DFNA5
DFNA5; ICERE1; Non-syndromic hearing impairment protein 5; Inversely correlated with estrogen receptor expression 1; ICERE-1
1687
O60443
产品应用
WB 1:500-1:2000, ELISA 1:40000.Not yet tested in other applications.
54kDa
研究背景
Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008],disease:Defects in DFNA5 are the cause of non-syndromic sensorineural deafness autosomal dominant type 5 (DFNA5) [MIM:600994]. DFNA5 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.,similarity:Belongs to the gasdermin family.,tissue specificity:Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta.,
研究领域
武汉恩玑生命科技有限公司
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