DFNA5,耳聋相关常染色体显性遗传5抗体

产品编号HZ-14286R
英文名称DFNA5
中文名称耳聋相关常染色体显性遗传5抗体
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.
说 明 书0.1ml 0.2ml
研究领域免疫学 神经生物学
抗体来源Rabbit
克隆类型Polyclonal
交叉反应Human, Mouse, Rat, Dog, Cow, Sheep,
DFNA5,耳聋相关常染色体显性遗传5抗体产品应用WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复）
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
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human DFNA5
亚 型IgG
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.
DFNA5,耳聋相关常染色体显性遗传5抗体PubMedPubMed
产品介绍background:
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]

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.

DISEASE:
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.

Similarity:
Belongs to the gasdermin family.

Gene ID:
1687

Database links:
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

DFNA5,耳聋相关常染色体显性遗传5抗体Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.