MyBioSource.com's Anti-C12orf4 Antibody, Rabbit Polyclonal is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Western Blot. The Anti-C12orf4 Antibody, Rabbit Polyclonal was generated using C12orf4 as the antigen and it reacts with Human.
Description
C12ORF4 is likely involved in ADP-ribosylation of proteins, an important post-translational modification that plays a key role in signal transduction in many important cellular processes such as DNA repair, regulation of transcription, maintenance of chromatin stability, cell differentiation and proliferation, necrosis and apoptosis. In rats, the gene orthologous to C12ORF4 encodes a cytoplasmic protein, involved in mast cell degranulation. The C12orf4 gene was first suggested as a possible candidate gene for autosomal recessive forms of Intellectual Disability (ARID) in one Arab family in 2015. The involvement of C12ORF4 in Intellectual Disability (ID) was confirmed by observation of the presence of specific mutations in this protein-coding gene in all ID affected members of the analyzed families, including a missense variant (L328P), a deletion (Q267fs) and a frameshift