Anti-CCDC50抗体This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic,

产品编号 yb-6920R
英文名称 Anti-CCDC50抗体
中文名称 卷曲螺旋结构域蛋白50抗体
别    名 C3orf6; C3orf6 YMER; CCD50_HUMAN; CCDC 50; Ccdc50; Chromosome 3 open reading frame 6; Coiled coil domain containing 50; Coiled coil domain containing protein 50; Coiled-coil domain-containing protein 50; Protein Ymer; Ymer; Ymer protein.
Anti-CCDC50抗体
说 明 书 0.1ml  0.2ml  
研究领域 细胞生物  免疫学  表观遗传学  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat, 
产品应用 WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=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 34kDa
性    状 Lyophilized or Liquid
浓    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human CCDC50
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.

PubMed PubMed
产品介绍 background:
This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008].

Function:
Involved in EGFR signaling.

Tissue Specificity:
Isoform 1 and isoform 2 are co-expressed in placenta, liver, lung, kidney and pancreas. Only isoform 1 is detected in skeletal muscle, brain and heart.

Post-translational modifications:
Phosphorylated on tyrosine residues.

DISEASE:
Defects in CCDC50 are the cause of deafness autosomal dominant type 44 (DFNA44) . A form of non-syndromic hearing loss. It is initially moderate and affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade. The onset of the hearing loss occurs in the first decade of life.


Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.