Rabbit Anti-DFNA5/FITC Conjugated antibody
|别 名||2310037D07Rik; 4932441K13Rik; Deafness, autosomal dominant 5; Deafness, autosomal dominant 5 protein; DFNA5; DFNA5 gene; DFNA5_HUMAN; Dfna5h; EG14210; Fin15; ICERE 1; ICERE-1; Inversely correlated with estrogen receptor expression 1; Non-syndromic hearing impairment protein 5; Nonsyndromic hearing impairment protein.|
|规格价格||100ul/2980元 购买 大包装/询价|
|说 明 书||100ul|
|交叉反应||Human, Mouse, Rat, Dog, Cow, Sheep,|
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
|分 子 量||54kDa|
|性 状||Lyophilized or Liquid|
|免 疫 原||KLH conjugated synthetic peptide derived from human DFNA5|
|纯化方法||affinity purified by Protein A|
|储 存 液||0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.|
|保存条件||Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.|
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]
Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta.
Defects in DFNA5 are the cause of 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.
Belongs to the gasdermin family.
Entrez Gene: 1687 Human
Entrez Gene: 54722 Mouse
Entrez Gene: 353316 Rat
Omim: 608798 Human
SwissProt: O60443 Human
SwissProt: Q9Z2D3 Mouse
Unigene: 520708 Human
Unigene: 248361 Mouse
Unigene: 96433 Rat
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications
听力障碍是一个异质性的情况，描述了超过40个位点。该基因编码的蛋白在胎儿耳蜗中表达，但其功能尚不清楚。非综合征性听力损害与该基因的突变有关。三个转录变体，编码两种不同的异构体已经发现这个基因。[ RefSeq，JUL 2008 ]