Phospho-Artemis (S516) Polyclonal Antibody, 20ul Roller Bottles Mutations in TCOF1 have been

Mutations in TCOF1 have been associated with Treacher Collins syndrome

Two alternatively spliced transcript variants for this gene have been described

This protein has been shown to interact with

3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch

An important paralog of this gene is CYB5R3

Phospho-Artemis (S516) Polyclonal Antibody, 20ul Roller Bottles Mutations in TCOF1 have beenDCLRE1C encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single strand specific 5' 3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in DCLRE1C can cause Athabascan type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative