NDUFB9 - NADH:ubiquinone oxidoreductase subunit B9 Gene

Homo sapiens

Also known as B22; LYRM3; CI-B22; UQOR22; MC1DN24

Gene ID: 4715 | Gene type: protein coding

About NDUFB9

Cytogenetic location: 8q24.13 Genomic coordinates (GRCh38): 8:124,539,123-124,549,979 (from NCBI)

This gene has 16 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 119.4), kidney (RPKM 111.6) and 25 other tissues.

Summary

The protein encoded by this gene is a subunit of the mitochondrial Oxidative Phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in Oxidative Phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

NDUFB9 Products(4)

mRNA	Protein	Name
NM_001278645.2	NP_001265574.1	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 2
NM_001278646.2	NP_001265575.1	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 3
NM_001311168.2	NP_001298097.1	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 4
NM_005005.3	NP_004996.1	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	27626371	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	28844695	GOA
part of respiratory chain complex I	IDA IDA: Inferred from direct assay	12611891	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

NDUFB9 Protein Structure

Complex1_LYR

0
100
179 a.a.

Protein Preferred Names

Protein Names

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9

LYR motif-containing protein 3

NDUFB9 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NDUFB9	Q9Y6M9	MAGEA11	Homo sapiens	P43364-2	Y2H Array	25416956
Intra	NDUFB9	Q9Y6M9	MAGEA11	Homo sapiens	P43364-2	Y2H Prey Pooling	25416956
Intra	NDUFB9	Q9Y6M9	MAGEA11	Homo sapiens	P43364	Y2H Prey Pooling	32296183
Intra	NDUFB9	Q9Y6M9	MAGEA11	Homo sapiens	P43364	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Mitochondrial Complex I Deficiency, Nuclear Type 24

MC1DN24	Mitochondrial Complex 1 Deficiency, Nuclear Type 24
Nuclear Type Mitochondrial Complex I Deficiency 24

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency	Nadh:Q(1) Oxidoreductase Deficiency
MC1DN1	Nadh-Coenzyme Q Reductase Deficiency
Isolated Mitochondrial Respiratory Chain Complex I Deficiency	Isolated Nadh-Coenzyme Q Reductase Deficiency
Isolated Nadh-Coq Reductase Deficiency	Isolated Nadh-Ubiquinone Reductase Deficiency
Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of	Nuclear Type Mitochondrial Complex I Deficiency 1
Isolated Complex I Deficiency	Complex 1 Mitochondrial Respiratory Chain Deficiency
Nadh Coenzyme Q Reductase Deficiency	Complex I Mitochondrial Respiratory Chain Deficiency
Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I	Nadh:Ubiquinone Oxidoreductase Deficiency
Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Epilepsy, Idiopathic Generalized 11

Epilepsy, Idiopathic Generalized, Susceptibility To, 11	EIG11
Epilepsy, Juvenile Absence 2	Epilepsy, Juvenile Myoclonic 8
Idiopathic Generalized Epilepsy 11	Epilepsy, Juvenile Absence, Susceptibility To, 2
Epilepsy, Juvenile Myoclonic, Susceptibility To, 8	Susceptibility To Idiopathic Generalized Epilepsy 11
Juvenile Absence Epilepsy 2	JAE2
Eja2	Susceptibility To Juvenile Absence Epilepsy 2
Juvenile Myoclonic Epilepsy 8	EJM8
Susceptibility To Juvenile Myoclonic Epilepsy 8	Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 11

Chronic Laryngitis

Liver Disease

Liver Failure	Liver Diseases
Abnormality Of The Liver	Liver Dysfunction
Disorder Of Liver	Hepatic Disorder
Hepatic Disease	Disease Of Bilirubin Metabolism
Disorder Of Bilirubin Metabolism	Liver Decompensation
Liver Function Failure	Hepatic Failure Nos
Liver Failure Nos	End Stage Liver Disease
Decompensated Liver Failure	Decompensation Of Liver Function
Hepatic Decompensation	Hepatic Insufficiency
Liver Cell Necrosis With Hepatic Failure	Liver Insufficiency
Decompensated Liver Disease	End Stage Liver Failure
Liver Necrosis With Hepatic Failure

Cardiomyopathy, Infantile Histiocytoid

Histiocytoid Cardiomyopathy	Foamy Myocardial Transformation Of Infancy
Infantile Histiocytoid Cardiomyopathy	Infantile Xanthomatous Cardiomyopathy
Oncocytic Cardiomyopathy	Cardiomyopathy, Infantile Xanthomatous
Cardiomyopathy, Focal Lipid	Cardiomyopathy, Oncocytic
Focal Lipid Cardiomyopathy	Infantile Cardiomyopathy With Histiocytoid Change
CMIH	Cardiomyopathy Focal Lipid
Cardiomyopathy Infantile Xanthomatous	Cardiomyopathy Oncocytic

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Leukodystrophy

Leukodystrophies

Myopathy

Muscular Diseases

Myopathies

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-169281	Antiviral agent 61		/	Unkown
HY-RS09154	NDUFB9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NDUFB9	VGNC	VGNC:31967
Felis catus	NDUFB9	VGNC	VGNC:81713
Rattus norvegicus	NDUFB9	RGD	RGD:1307114
Macaca mulatta	NDUFB9	VGNC	VGNC:75160
Mus musculus	NDUFB9	MGD	MGI:1913468
Canis familiaris	NDUFB9	VGNC	VGNC:43706

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