NNT - nicotinamide nucleotide transhydrogenase Gene

Homo sapiens

Also known as GCCD4

Gene ID: 23530 | Gene type: protein coding

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

NNT Protein Structure

AlaDh_PNT_N

AlaDh_PNT_C

PNTB_4TM

PNTB

0
200
400
600
800
1000
1086 a.a.

Protein Preferred Names

Protein Names

NAD(P) transhydrogenase, mitochondrial

pyridine nucleotide transhydrogenase

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09396	NNT Human Pre-designed siRNA Set A		/	Unkown

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