GTP Binding Protein 6 (GTPBP6)

GTPBP6 is highly conserved across several species and was found to be expressed in all tissues examined. The PGPL gene encodes a protein of 442 amino acids and shows the consensus sequences of a series of motifs of the GTP-binding protein domain. Isolation of this gene began with the isolation of an EST from human skeletal muscle and mapping of the EST on the X and Y chromosomes by Silver-stained denaturing polyacrylamide gel electrophoresis. Using fluorescence in situ hybridization on normal males and on patients with rearrangements in the pseudoautosomal region, they localized the gene within 500 kb of the telomere. Further refinement using a cosmid contig of the region placed this novel gene within 80 to 110 kb of the telomere, making it the most telomeric gene on the short arms of the sex chromosomes.