Coiled-coil domain-containing protein 50 (Protein Ymer) (CCDC50 C3orf6)

Function

• role in EGFR signaling
• phosphorylated on tyrosine residues

Alternative splicing

named isoforms=2

Expression

• isoforms 1 & 2 are co-expressed in placenta, liver, lung, kidney & pancreas
• only isoform 1 is detected in skeletal muscle, brain & heart

Genetics

• gene found in a critical region of hereditary spastic paraplegia (HSP) SPG14 locus
• no causative C3orf6 mutations were found in HSP families

More general terms

• coiled-coil domain-containing protein (CCDC)
• phosphoprotein

Database

• UniProt: http://www.uniprot.org/uniprot/Q8IVM0.html