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Literature summary for 1.6.1.2 extracted from

  • Weinberg-Shukron, A.; Abu-Libdeh, A.; Zhadeh, F.; Carmel, L.; Kogot-Levin, A.; Kamal, L.; Kanaan, M.; Zeligson, S.; Renbaum, P.; Levy-Lahad, E.; Zangen, D.
    Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress (2015), J. Med. Genet., 52, 636-641 .
    View publication on PubMed
Search for more literature for 1.6.1.2

Protein Variants

Protein Variants Comment Organism
G200S the mutation is associated with familial glucocorticoid deficiency Homo sapiens

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
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
adrenocortical cell
-
 Homo sapiens
-
fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

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