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DGUOK

Function

Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine (PubMed:11687801, PubMed:17073823, PubMed:23043144, PubMed:8692979, PubMed:8706825). In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on DGUOK and TK2. Phosphorylates certain nucleoside analogs (By similarity). Widely used as target of antiviral and chemotherapeutic agents.

Involvement in disease

Mitochondrial DNA depletion syndrome 3

MTDPS3

A disorder due to mitochondrial dysfunction characterized by onset in infancy of progressive liver failure, hypoglycemia, increased lactate in body fluids, and neurologic abnormalities including hypotonia, encephalopathy, peripheral neuropathy. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes and mtDNA depletion.

None

The disease is caused by variants affecting the gene represented in this entry.

Portal hypertension, non-cirrhotic, 1

NCPH1

An autosomal recessive disorder characterized by portal hypertension associated with hepatosplenomegaly, in absence of cirrhosis, extrahepatic diseases, and splanchnic venous thrombosis. Portal hypertension is defined by a portal venous system pressure that is at least 5 mm Hg higher than the pressure in the inferior vena cava. High pressure in the portal venous system leads to shunting of blood through vessels that are poorly suited to carrying large blood volumes, resulting in collateral circulation and splenomegaly. NCPH1 patients show normal liver function.

None

The disease is caused by variants affecting the gene represented in this entry.

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4

PEOB4

A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB4 patients manifest clinically variable features including mitochondrial myopathy with or without progressive external ophthalmoplegia, recurrent rhabdomyolysis, and adult-onset lower motor neuron syndrome with mild cognitive impairment.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the DCK/DGK family.

Tissue Specificity

Ubiquitous. Highest expression in muscle, brain, liver and lymphoid tissues.

Cellular localization

Alternative names

DGK, DGUOK

swissprot:Q16854 entrezGene:1716 swissprot:Q9BVK7 swissprot:Q7L1W9 swissprot:Q4ZG09 omim:601465