Protein Variants | Comment | Organism |
---|---|---|
E165V | naturally occuring enzyme mutation involved in mitochondrial depletion syndrome | Homo sapiens |
F256X | naturally occuring enzyme mutation involved in mitochondrial depletion syndrome | Homo sapiens |
M1I | naturally occuring enzyme mutation involved in mitochondrial depletion syndrome | Homo sapiens |
additional information | identification of deoxyguanosine kinase gene mutations. Most frequent mutation identified in patients with liver pathology is the c.3G>A substitution in the DGUOK exon 1, potentially causing a severe impairment in the synthesis of the protein, geno-y and phenotypes, overview | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
liver | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
DGUOK | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | deoxyguanosine kinase deficiency associated with mutations in the deoxyguanosine kinase gene is responsible for hepatic mitochondrial depletion syndrome phenotype, the disease is characterized by tissue-specific pathology. Deoxyguanosine kinase gene mutations combined with impaired glucose homeostasis and iron overload features cause lethal progressive liver failure in infants | Homo sapiens |