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Literature summary for 2.7.1.113 extracted from

  • Vilarinho, S.; Sari, S.; Yilmaz, G.; Stiegler, A.L.; Boggon, T.J.; Jain, D.; Akyol, G.; Dalgic, B.; Guenel, M.; Lifton, R.P.
    Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension (2016), Hepatology, 63, 1977-1986.
    View publication on PubMedView publication on EuropePMC

Protein Variants

Protein Variants Comment Organism
N46S the mutation is associated with familial idiopathic noncirrhotic portal hypertension Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
Homo sapiens 5739
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + deoxyguanosine Homo sapiens
-
ADP + dGMP
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q16854
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + deoxyguanosine
-
Homo sapiens ADP + dGMP
-
?

Synonyms

Synonyms Comment Organism
DGUOK
-
Homo sapiens