PUS7L Antibody / Pseudouridylate synthase 7 homolog-like protein

Pseudouridylate synthase 7 homolog-like protein is an enzyme that in humans is encoded by the PUS7L gene. PUS7L (pseudouridylate synthase 7 homolog (S. cerevisiae) -like) is a 701 amino acid protein that belongs to the pseudouridine synthase truD family and contains one TRUD domain. The PUS7L gene is conserved in chimpanzee, canine, bovine, mouse, chicken and zebrafish, and maps to human chromosome 12q12. Encoding over 1,100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction.