| ELK.No | ES17777 |
| Product name | CCD50 rabbit pAb |
| Reactivity | Human; Mouse;Rat |
| Applications | WB |
| Other name | |
| Size | 50μL |
| Unit price ($) | 148 |
| Human gene ID | 152137 |
| Human Swiss-Prot | Q8IVM0 |
| Source | Rabbit |
| Isotype | IgG |
| Target | CCD50 |
| Fields | |
| Gene name | CCDC50 C3orf6 |
| Protein name | CCD50 |
| Human gene link | View Human Gene |
| Human Swiss link | View Human Swiss-Prot |
| Mouse gene ID | 67501 |
| Mouse gene link | View Mouse Gene |
| Mouse Swiss-Prot | Q810U5 |
| Mouse Swiss link | View Mouse Swiss-Prot |
| Rat gene ID | 288022 |
| Rat gene link | View Rat Gene |
| Rat Swiss-Prot | Q810U0 |
| Rat Swiss link | View Rat Swiss-Prot |
| Immunogen | Synthesized peptide derived from human CCD50 AA range: 221-271 |
| Specificity | This antibody detects endogenous levels of CCD50 at Human/Mouse/Rat |
| Formulation | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Clonality | Polyclonal |
| Dilution | WB 1:500-2000 |
| Purification | The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen. |
| Concentration | 1 mg/ml |
| Storage stability | -20°C/1 year |
| Molecular Weight (Da) | 34kD |
| Observed band (KD) | |
| 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 | disease:Defects in CCDC50 are the cause of autosomal dominant non-syndromic sensorineural deafness type 44 (DFNA44) [MIM:607453]. The hearing loss 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 1st decade of life.,function:Involved in EGFR signaling.,miscellaneous:Found in a critical region of hereditary spastic paraplegia (HSP) SPG14 locus. No causative CCDC50 mutations were found in HSP families.,PTM:Phosphorylated on tyrosine residues.,subcellular location:Associated with microtubules of the cytoskeleton and mitotic apparatus.,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., |
| Subcellular location | Cytoplasm. Associated with microtubules of the cytoskeleton and mitotic apparatus. . |
| Expression | Isoform 1 and isoform 2 are coexpressed in placenta, liver, lung, kidney and pancreas. Only isoform 1 is detected in skeletal muscle, brain and heart. |

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