NNT - nicotinamide nucleotide transhydrogenase Gene

Also Known as GCCD4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23530

About NNT

Cytogenetic location: 5p12 Genomic coordinates (GRCh38): 5:43,602,675-43,707,396 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NNT Protein Structure

AlaDh_PNT_N

AlaDh_PNT_N: Alanine dehydrogenase/PNT, N-terminal domain (60 - 199)

AlaDh_PNT_C

AlaDh_PNT_C: Alanine dehydrogenase/PNT, C-terminal domain (208 - 372)

PNTB_4TM

PNTB_4TM: 4TM region of pyridine nucleotide transhydrogenase, mitoch (500 - 587)

PNTB

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

  • pyridine nucleotide transhydrogenase

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
  • GCCD4

  • Glucocorticoid Deficiency 4, With Or Without Mineralocorticoid Deficiency

  • Familial Glucocorticoid Deficiency 4

  • Fgd4

  • Glucocorticoid Deficiency 4

Familial Glucocorticoid Deficiency
  • Glucocorticoid Deficiency

  • Acth Resistance

  • Adrenal Unresponsiveness To Acth

  • Hereditary Unresponsiveness To Adrenocorticotropic Hormone

  • Isolated Glucocorticoid Deficiency

  • Glucocorticoid Deficiency, Familial

  • Glucocorticoid Deficiency 1

Achalasia-Addisonianism-Alacrima Syndrome
  • Allgrove Syndrome

  • Triple-A Syndrome

  • Achalasia-Addisonianism-Alacrimia Syndrome

  • Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder

  • Triple A Syndrome

  • Aaa Syndrome

  • AAAS

  • Glucocorticoid Deficiency With Achalasia

  • Glucocorticoid Deficiency And Achalasia

  • Addisonian-Achalasia Syndrome

  • Hypoadrenalism With Achalasia

  • Alacrima-Achalasia-Addisonianism

  • Aaa

  • Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima

  • Achalasia Addisonianism Alacrimia Syndrome

  • Achalasia Alacrima Syndrome

  • Addisonian Achalasia Syndrome

  • Achalasia-Addisonian Syndrome

  • Achalasia-Alacrima Syndrome

  • 2a Syndrome

  • 3a Syndrome

  • 4a Syndrome

  • Adrenal Insufficiency-Achalasia-Alacrima Syndrome

  • Double A Syndrome

  • Quaternary A Syndrome

  • Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima

  • Allgrove'S Syndrome

  • Adrenal Gland Hypofunction

  • Adrenal Cortical Hypofunction

Seckel Syndrome 5
  • SCKL5

  • Seckel Syndrome, Type 5

Glucose Intolerance
  • Glucose: Intolerance

  • Glucose: Malabsorption

  • Malabsorption Of Glucose

  • Impaired Glucose Tolerance

Facial Dermatosis
  • Facial Dermatoses

Microcephaly 1, Primary, Autosomal Recessive
  • MCPH1

  • Premature Chromosome Condensation Syndrome

  • Pcc Syndrome

  • Primary Autosomal Recessive Microcephaly 1

  • Microcephaly, Primary Autosomal Recessive, 1

  • Premature Chromosome Condensation With Microcephaly And Mental Retardation

  • Microcephaly Vera

  • True Microcephaly

  • Microcephaly, Type 1, Primary, Autosomal Recessive

  • Autosomal Recessive Primary Microcephaly

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
  • Image Syndrome

  • IMAGE

  • Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome

  • Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

  • Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities

  • Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies

  • Image Anomaly

  • Image Association

  • Fetal Growth Retardation

  • Pyle Metaphyseal Dysplasia

Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
  • P450scc Deficiency

  • Congenital Adrenal Insufficiency

  • Adrenal Insufficiency, Congenital, With 46xy Sex Reversal, Partial Or Complete

  • 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11a1 Deficiency

  • Xy Sex Reversal-Adrenal Failure

  • Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal

  • AICSR

  • Adrenal Insufficiency Congenital With 46,Xy Sex Reversal Partial Or Complete

  • Adrenal Insufficiency, Congenital

  • Congenital Adrenal Hyperplasia

  • Adrenogenital Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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