NNT

Chr 5p12

nicotinamide nucleotide transhydrogenase

MANE:: ENST00000344920.9

OMIM: 607878 ↗NCBI: 23530 ↗Ensembl ↗

Annotations refreshed 11 hours ago.

Predicted protein structure

AlphaFold predicted structure

NNT · Q13423

v62025-08-01

Predicted Aligned Error matrix for NNT — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.9/ 100

Very high

1,086 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)14%
Low(50–70)2%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital adrenal hypoplasia
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

familial glucocorticoid deficiency
0.64
neurodegenerative disease
0.50
hereditary disease
0.45
atypical hemolytic-uremic syndrome with DGKE deficiency
0.42
Abnormality of the skeletal system
0.38
Cytomegalic congenital adrenal hypoplasia
0.38
inborn mitochondrial metabolism disorder
0.37
mitochondrial disease
0.37
Barrett esophagus
0.23
orofacial cleft
0.16

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

NAD(P) transhydrogenase, mitochondrial

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)