Expressed in a wide range of tissues with High expression in Placenta, kidney and lung. The disease is caused by variants affecting the gene represented in this entry. Likely interchromosomal Alu-mediated fusion between IGSF3 on 1p13.1 and GGT on 22q11.2. Breakpoints occurred inside Alu elements as well as in the 5' or 3' ends of them. Extended N-terminus.