CDK9's role in promoting genome integrity is regulated at least in part through deacetylation by the SIRT2 sirtuin deacetylase and breast tumor suppressor protein, which promotes its kinase activity  and in turn phosphorylates UBE2A
and directs H2Bub1 and PCNA ubiquitinylation .
Lukiw, "Deficiency in the ubiquitin conjugating enzyme UBE2A
in Alzheimer's disease (AD) is linked to deficits in a natural circular miRNA-7 sponge (circRNA; ciRS-7)," Genes, vol.
The gene for BDCS has been mapped to the distal part of the long arm of chromosome X, in the Xq24-q27.1 region.3 A culprit gene has been proposed, the UBE2A
gene, thought to be involved in DNA repair after ultraviolet-induced damage, and which has been mapped to Xq24-q25.3 A large number of families with BDCS originated from Central Europe, mostly from Belgium and France.
A number of these genes play a role in mediating DNA repair, including ubiquitin-conjugating enzyme E2A (UBE2A
), which is a member of the RAD6 pathway that uses ubiquitin conjugation to control DNA damage-induced mutagenesis (Stelter and Ulrich 2003).