NNT The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions as a proton pump across the membrane. May play a role in reactive oxygen species (ROS) detoxification in the adrenal gland. Defects in NNT are the cause of glucocorticoid deficiency type 4 (GCCD4). A rare, potentially lethal, autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. Note: This description may include information from UniProtKB.
Protein type: Cofactor and Vitamin Metabolism - nicotinate and nicotinamide; EC; Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Oxidoreductase
Chromosomal Location of Human Ortholog: 5p12
Cellular Component:  integral component of membrane; mitochondrial inner membrane; mitochondrial respiratory chain; mitochondrion
Molecular Function:  NAD binding; NAD(P)+ transhydrogenase (B-specific) activity; NADP binding
Biological Process:  cell redox homeostasis; cellular oxidant detoxification; negative regulation of apoptotic process; negative regulation of protein phosphorylation; oxidation-reduction process; oxygen homeostasis; positive regulation of hydrogen peroxide catabolic process; positive regulation of mitochondrial membrane potential; proton transmembrane transport; reactive oxygen species metabolic process; response to vitamin; tricarboxylic acid cycle
Disease: Glucocorticoid Deficiency 4
Reference #:  Q13423 (UniProtKB)
Alt. Names/Synonyms: MGC126502; MGC126503; NAD(P) transhydrogenase, mitochondrial; Nicotinamide nucleotide transhydrogenase; NNT; NNTM; Pyridine nucleotide transhydrogenase
Gene Symbols: NNT
Molecular weight: 113,896 Da
Basal Isoelectric point: 8.31  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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