NUD10 Rabbit Polyclonal Antibody, 100ul Digital Burette Mutations in this gene have

Mutations in this gene have been associated with KBG syndrome| which is characterized by macrodontia| distinctive craniofacial features| short stature| skeletal anomalies| global developmental delay| seizures and intellectual disability

H+ transporting

but the full-length nature of only two transcript variants has been determined

and cell migration

Alternative splicing of this gene generates two transcript variants diverging in the 3' region

NUD10 Rabbit Polyclonal Antibody, 100ul Digital Burette Mutations in this gene haveThis gene is a member of the nudix (nucleoside diphosphate linked moiety X) type motif containing family. The encoded protein is a phosphohydrolase and may regulate the turnover of diphosphoinositol polyphosphates. The turnover of these high energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to the regulation of