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
Involved in EGFR signaling.
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.
Involvement in disease
Defects 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.
Phosphorylated on tyrosine residues.
Cytoplasm. Associated with microtubules of the cytoskeleton and mitotic apparatus.