Reactive species
Human; Mouse;Rat
Antibody type
Polyclonal Antibody
Immunogen
Synthesized peptide derived from human CCD50 AA range: 221-271
Specificity
This antibody detects endogenous levels of CCD50 at Human/Mouse/Rat
Constitute
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source
Polyclonal, Rabbit,IgG
Dilution rate
WB 1：500-2000
Purification process
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
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.,
