NNT - nicotinamide nucleotide transhydrogenase Gene
Also Known as GCCD4
Species: Homo sapiens
About NNT
This gene has 24 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Broad expression in heart (RPKM 59.4), liver (RPKM 33.2) and 24 other tissues.
Summary
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. [provided by RefSeq, Sep 2016]
NNT Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001331026.2 | NP_001317955.1 | NAD(P) transhydrogenase, mitochondrial isoform 2 |
| NM_012343.4 | NP_036475.3 | NAD(P) transhydrogenase, mitochondrial isoform 1 |
| NM_182977.3 | NP_892022.2 | NAD(P) transhydrogenase, mitochondrial isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables NADP binding |
IDA
IDA: Inferred from direct assay
|
10673423 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in reactive oxygen species metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
22634753 | GOA |
NNT Protein Structure
AlaDh_PNT_N: Alanine dehydrogenase/PNT, N-terminal domain (60 - 199)
AlaDh_PNT_C: Alanine dehydrogenase/PNT, C-terminal domain (208 - 372)
PNTB_4TM: 4TM region of pyridine nucleotide transhydrogenase, mitoch (500 - 587)
PNTB: NAD(P) transhydrogenase beta subunit (619 - 1080)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1086 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
NAD(P) transhydrogenase, mitochondrial |
|
NNT Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P89594 | NNT Antibody (YA8938) | WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA | human, mouse, rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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| Familial Glucocorticoid Deficiency |
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| Achalasia-Addisonianism-Alacrima Syndrome |
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| Seckel Syndrome 5 |
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| Glucose Intolerance |
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| Facial Dermatosis |
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| Microcephaly 1, Primary, Autosomal Recessive |
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| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
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| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | NNT | VGNC | VGNC:75363 |
| Rattus norvegicus | NNT | RGD | RGD:1587346 |
| Bos taurus | NNT | VGNC | VGNC:32143 |
| Mus musculus | NNT | MGD | MGI:109279 |
| Canis familiaris | NNT | VGNC | VGNC:43870 |
| Felis catus | NNT | VGNC | VGNC:68510 |
| Others | NNT | NCBI |