Rpb1 CTD(Phospho-Thr4) Rabbit Polyclonal Antibody, 100ul[BT-AP04537] Funnels Duplication of a regulatory region

Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients

Alternative splicing of GBA3 results in multiple transcript variants

Mutations in this gene cause Omenn syndrome

Can also act on the LYN and FYN kinases

suggesting that

Rpb1 CTD(Phospho-Thr4) Rabbit Polyclonal Antibody, 100ul[BT-AP04537] Funnels Duplication of a regulatory regionThis gene encodes the largest subunit of RNA polymerase II the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition this subunit in combination with several other polymerase