Ankyrin Repeat And IBR Domain Containing Protein 1 (ANKIB1)

Additional RT-QPCR analysis showed the extension of the deletion, for a total of 700kb, to the adjacent downstream and upstream-located genes, MTERF, AKAP9, CYP51A1, as well as a partial loss of the ANKIB1 gene.The ANKIB1 gene was characterized by a discrepancy between the normal DNA D-CN and an evident decrease of expression level. For the ANKIB1 gene, additional RT-QPCR analysis by using intragenic primers revealed that the deletion affected a large segment of the gene with a breakpoint located in the intron 10 flanked by the amplicons ANKIB1-Ex11 (not deleted) and ANKIB1-Ex10 (deleted). Few information about the function of ANKIB1 was available at the time of this work. though the ANKIB1 was recently described as a UIM (ubiquitin-interacting motif) protein with an ubiquitylation function.