The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 0.05 - 0.5 µg/ml. Detects a band of approximately 36 kDa (predicted molecular weight: 36 kDa).
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.