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:
Involved in EGFR signaling.
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.
Post-translational modifications:
Phosphorylated on tyrosine residues.
DISEASE:
Defects in CCDC50 are the cause of deafness autosomal dominant type 44 (DFNA44) . 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.
Database links:
Entrez Gene: 152137 Human
Entrez Gene: 67501 Mouse
Entrez Gene: 217622 Rat
SwissProt: Q8IVM0 Human
SwissProt: Q3TNK7 Mouse
SwissProt: Q3TRW1 Mouse
SwissProt: Q810U5 Mouse
SwissProt: Q810U0 Rat
Unigene: 478682 Human
Unigene: 258985 Mouse
Unigene: 9610 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
