CCDC50,卷曲螺旋结构域蛋白50抗体

产品编号HZ-6920R
英文名称CCDC50
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.
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,
CCDC50,卷曲螺旋结构域蛋白50抗体产品应用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.
CCDC50,卷曲螺旋结构域蛋白50抗体PubMedPubMed
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.

CCDC50,卷曲螺旋结构域蛋白50抗体Database links:
Entrez Gene: 152137 Human
Entrez Gene: 67501 Mouse
Entrez Gene: 288022 Rat
SwissProt: Q8IVM0 Human
SwissProt: Q3TNK7 Mouse
SwissProt: Q3TRW1 Mouse
SwissProt: Q810U5 Mouse
SwissProt: Q810U0 Rat
Unigene: 478682 Human
Unigene: 258985 Mouse
Unigene: 9610 Rat

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