NNT Antibody – Rabbit Polyclonal

This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. Two alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

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.

Protein type: Mitochondrial; EC 1.6.1.2; Membrane protein, multi-pass; Membrane protein, integral; Oxidoreductase; Cofactor and Vitamin Metabolism - nicotinate and nicotinamide

Chromosomal Location of Human Ortholog: 5p12

Cellular Component: mitochondrion; membrane; mitochondrial inner membrane; integral to membrane; mitochondrial respiratory chain

Molecular Function: NAD(P) transhydrogenase activity; NAD(P)+ transhydrogenase (AB-specific) activity; NADP binding; NAD binding; NAD(P)+ transhydrogenase (B-specific) activity

Biological Process: cellular metabolic process; proton transport; tricarboxylic acid cycle; cell redox homeostasis

Disease: Glucocorticoid Deficiency 4