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MGP004699

UniProt Annotations

Entry Information
Gene Namenicotinamide nucleotide transhydrogenase
Protein EntryNNTM_HUMAN
UniProt IDQ13423
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityNADPH + NAD(+) = NADP(+) + NADH.
DiseaseGlucocorticoid deficiency 4 (GCCD4) [MIM:614736]: 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. {ECO:0000269|PubMed:22634753}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThe 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. {ECO:0000269|PubMed:22634753}.
SimilarityIn the C-terminal section; belongs to the PNT beta subunit family. {ECO:0000305}.
SimilarityIn the N-terminal section; belongs to the AlaDH/PNT family. {ECO:0000305}.
Subcellular LocationMitochondrion inner membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}; Matrix side {ECO:0000305}.
SubunitHomodimer. {ECO:0000250}.
Tissue SpecificityWidely expressed with expression most readily detectable in adrenal, heart, kidney, thyroid and adipose tissues. {ECO:0000269|PubMed:22634753}.
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