GTP binding protein 6 (GTPBP6)

GTP binding protein 6 (GTPBP6) is a protein encoded by the GTPBP6 gene in humans, located in the pseudoautosomal region at the end of the short arms of both the X and Y chromosomes[1][7]. This protein belongs to the general class of GTP-binding proteins, which act as molecular switches in cells through their ability to bind and hydrolyze GTP, playing crucial roles in signal transduction and other regulatory processes[2][4]. However, specific biochemical or signaling functions of GTPBP6 itself remain uncharacterized beyond GTP binding[1][3]. Mutations or overexpression of GTPBP6 have been associated with certain rare genetic conditions (such as Leri-Weill dyschondrosteosis and hypogonadotropic hypogonadism) and may play a role in the cognitive phenotype in individuals with Klinefelter syndrome, but there is no current evidence that it serves as a direct therapeutic target or has characterized interactions with small molecule drugs[1][3][7]. Additional aliases include "pseudoautosomal GTP binding protein-like"[5].

Other names

pseudoautosomal GTP binding protein-like[5]GTPBP6 (putative)[1]HGNC:30189NCBI Gene:8225