|Other Names||Coiled-coil domain-containing protein 50, Protein Ymer, CCDC50, C3orf6|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Involved in EGFR signaling.|
|Cellular Location||Cytoplasm. Note=Associated with microtubules of the cytoskeleton and mitotic apparatus.|
|Tissue Location||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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This gene encodes a soluble, cytoplasmic,tyrosine-phosphorylated protein with multiple ubiquitin-interactingdomains. Mutations in this gene cause nonsyndromic, postlingual,progressive sensorineural DFNA44 hearing loss. In mouse, theprotein is expressed in the inner ear during development andpostnatal maturation and associates with microtubule-basedstructures. This protein may also function as a negative regulatorof NF-kB signaling and as an effector of epidermal growth factor(EGF)-mediated cell signaling. Alternative splicing results inmultiple transcript variants encoding distinct isoforms. [providedby RefSeq].
Farfsing, A., et al. Leukemia 23(11):2018-2026(2009)Kameda, H., et al. Biochem. Biophys. Res. Commun. 378(4):744-749(2009)Bohgaki, M., et al. Biochim. Biophys. Acta 1783(5):826-837(2008)Modamio-Hoybjor, S., et al. Am. J. Hum. Genet. 80(6):1076-1089(2007)Lamesch, P., et al. Genomics 89(3):307-315(2007)
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