DNA pol Gamma2 Polyclonal Antibody, 100ul Shakers velocardiofacial syndrome and giant platelet

velocardiofacial syndrome and giant platelet disorder

Lysine acetyltransferase 2B encoded by KAT2B associates with p300/CBP

an N-terminal DNA-binding domain| a centrally located transcriptional activation domain and a C-terminal domain involved in transcriptional repression

Pseudogenes associated with this gene have been identified and are located on chromosome 15

a 40-amino acid domain that contains three conserved disulfides

DNA pol Gamma2 Polyclonal Antibody, 100ul Shakers velocardiofacial syndrome and giant plateletPOLG2 encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The DNA polymerase gamma 2, accessory subunit forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.