protein C10orf6 (FAM178A)

Function

• phosphorylated upon DNA damage, probably by ATM or ATR

Expression

• widely expressed
• expressed at higher level in skeletal muscle & at slightly lower level in brain, liver & heart, than in lung, kidney, spleen & thymus

Genetics

• localized in the locus associated with inherited infantile onset spinocerebellar ataxia (IOSCA)
• no mutations found associated with IOSCA compared to control subjects; expression level in the brain was not different between the 2 populations

More general terms

• phosphoprotein

Database

• UniProt: http://www.uniprot.org/uniprot/Q8IX21.html