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Literature summary for 1.6.1.2 extracted from

  • Metherell, L.A.; Guerra-Assuncao, J.A.; Sternberg, M.J.; David, A.
    three-dimensional model of human nicotinamide nucleotide transhydrogenase (NNT) and sequence-structure analysis of its disease-causing variations (2016), Hum. Mutat., 37, 1074-1084 .
    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
A553V the mutation is associated with familial glucocorticoid deficiency Homo sapiens
D277Y the mutation is associated with left ventricular noncompaction Homo sapiens
F215S the mutation is associated with familial glucocorticoid deficiency Homo sapiens
G200S the mutation is associated with combined mineralocorticoid and glucocorticoid deficiency Homo sapiens
G664R the mutation is associated with familial glucocorticoid deficiency Homo sapiens
G678A the mutation is associated with familial glucocorticoid deficiency Homo sapiens
G862D 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
N1009K 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 FGD Homo sapiens
T357A the mutation is associated with familial glucocorticoid deficiency Homo sapiens
Y388S the mutation is associated with familial glucocorticoid deficiency Homo sapiens

Localization

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

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
NADPH + NAD+ Homo sapiens
-
 NADP+ + NADH
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q13423
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
NADPH + NAD+
-
 Homo sapiens NADP+ + NADH
-
 ?

Subunits

Subunits Comment Organism
homodimer
-
 Homo sapiens

Synonyms

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