Recombinant Human Coiled-coil domain-containing protein 50 (CCDC50)

Uniprot Id

Q8IVM0

Target Species

Human

Target Name

CCDC50

Target Full Name

Coiled-coil domain-containing protein 50

Target Function

Involved in EGFR signaling.

Target Involvement

Deafness, autosomal dominant, 44 (DFNA44)

Target Subcellular Location

Cytoplasm.

Target Tissue Specificity

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.

Target Synonyms

C3orf6; C3orf6 YMER; CCD50_HUMAN; CCDC 50; Ccdc50; Chromosome 3 open reading frame 6; Coiled coil domain containing 50; Coiled coil domain containing protein 50; Coiled-coil domain-containing protein 50; Protein Ymer; Ymer; Ymer protein

Target 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.