NNT
Function
The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions as a proton pump across the membrane (By similarity). May play a role in reactive oxygen species (ROS) detoxification in the adrenal gland (PubMed:22634753).
Involvement in disease
Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
GCCD4
A form of glucocorticoid deficiency, a rare 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
In the N-terminal section; belongs to the AlaDH/PNT family.
In the C-terminal section; belongs to the PNT beta subunit family.
Tissue Specificity
Widely expressed with expression most readily detectable in adrenal, heart, kidney, thyroid and adipose tissues.
Cellular localization
- Mitochondrion inner membrane
- Multi-pass membrane protein
- Matrix side
Alternative names
Nicotinamide nucleotide transhydrogenase, Pyridine nucleotide transhydrogenase, NNT