Literature summary for 2.7.1.113 extracted from

Pronicka, E.; Weglewska-Jurkiewicz, A.; Taybert, J.; Pronicki, M.; Szymanska-Debinska, T.; Karkucinska-Wieckowska, A.; Jakobkiewicz-Banecka, J.; Kowalski, P.; Piekutowska-Abramczuk, D.; Pajdowska, M.; Socha, P.; Sykut-Cegielska, J.; Wegrzyn, G.
Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure (2011), J. Appl. Genet., 52, 61-66.

Protein Variants

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