功能： 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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm. Associated with microtubules of the cytoskeleton and mitotic apparatus. .
组织表达： 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.
功能： 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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm. Associated with microtubules of the cytoskeleton and mitotic apparatus. .
组织表达： 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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