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Literature summary for 1.6.1.2 extracted from

  • Meimaridou, E.; Kowalczyk, J.; Guasti, L.; Hughes, C.; Wagner, F.; Frommolt, P.; Nuernberg, P.; Mann, P.; Banerjee, R.; Saka, H.N.; Chapple, J.P.; King, P.J,; Clark, A.J.L.; Metherell, L.A.
    Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency (2012), Nat. Genet., 44, 740-742.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 1.6.1.2

Protein Variants

Protein Variants Comment Organism
A1008P the mutation is associated with familial glucocorticoid deficiency Homo sapiens
A533V the mutation is associated with familial glucocorticoid deficiency Homo sapiens
G678R the mutation is associated with familial glucocorticoid deficiency Homo sapiens
H365P the mutation is associated with familial glucocorticoid deficiency Homo sapiens
L977P the mutation is associated with familial glucocorticoid deficiency Homo sapiens
P437L the mutation is associated with familial glucocorticoid deficiency Homo sapiens
S193N the mutation is associated with familial glucocorticoid deficiency Homo sapiens
Y201K the mutation is associated with familial glucocorticoid deficiency Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrial membrane
-
 Homo sapiens 31966
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
NADPH + NAD+ + H+[side 1] Homo sapiens
-
 NADP+ + NADH + H+[side 2]
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q13423
-
-

Source Tissue

Source Tissue Comment Organism Textmining
adrenal gland
-
 Homo sapiens
-
NCI-H295R cell
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
NADPH + NAD+ + H+[side 1]
-
 Homo sapiens NADP+ + NADH + H+[side 2]
-
 ?

Synonyms

Synonyms Comment Organism
nicotinamide nucleotide transhydrogenase
-
 Homo sapiens
NNT
-
 Homo sapiens

General Information

General Information Comment Organism
metabolism the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH Homo sapiens
physiological function the enzyme plays a role in reactive oxygen species detoxification in human adrenal glands Homo sapiens