The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Blocking - Blocking peptide for Anti-CCDC50 antibody (ab32884)
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Preparation and Storage
Stability and Storage
Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
Chromosome 3 open reading frame 6
Coiled coil domain containing 50
Coiled coil domain containing protein 50
Coiled-coil domain-containing protein 50
FunctionInvolved in EGFR signaling.
Tissue specificityIsoform 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.
Involvement in diseaseDefects in CCDC50 are the cause of deafness autosomal dominant type 44 (DFNA44) [MIM:607453]. 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.
Post-translational modificationsPhosphorylated on tyrosine residues.
Cellular localizationCytoplasm. Associated with microtubules of the cytoskeleton and mitotic apparatus.