| Modification Notes |
DGUOK (deoxyguanosine kinase), also known as DGK, is a 277 amino acid protein that localizes to mitochondria and exists as multiple alternatively spliced isoforms. Functioning as a homodimer and highly expressed in a variety of tissues, including liver, muscle and brain, DGUOK uses ATP to catalyze the conversion of deoxyguanosine to dGMP. Via its catalytic activity, DGUOK is essential for the phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix and is an important antiviral and chemotherapeutic tool. Defects in the gene encoding DGUOK are the cause of hepatocerebral mitochondrial DNA depletion syndrome (MDS), a group of disorders that result in reduced mtDNA (mitochondrial DNA) copy number and are characterized by liver failure and neurologic abnormalities. |