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NDUFA2 - NADH:ubiquinone oxidoreductase subunit A2 Gene

Also Known as B8; CD14; CIB8; MC1DN13

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4695

About NDUFA2

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:140,645,285-140,647,630 (from NCBI)

This gene has 4 transcripts (splice variants), 233 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 47.3), fat (RPKM 36.0) and 25 other tissues.

Summary

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

NDUFA2 Products (2)

mRNA	Protein	Name
NM_001185012.2	NP_001171941.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 isoform 2
NM_002488.5	NP_002479.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 isoform 1

Gene Ontology

Biological Process
Cellular Component

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

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	28844695	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	17209039	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

NDUFA2 Protein Structure

L51_S25_CI-B8

0
99 a.a.

Protein Preferred Names	Protein Names
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa

Related Diseases

Diseases	Alias
Mitochondrial Complex I Deficiency, Nuclear Type 13	MC1DN13 Mitochondrial Complex 1 Deficiency, Nuclear Type 13 Nuclear Type Mitochondrial Complex I Deficiency 13
Leukoencephalopathy, Cystic, Without Megalencephaly	Cystic Leukoencephalopathy Without Megalencephaly Rnaset2-Deficient Cystic Leukoencephalopathy Rnase T2-Deficient Leukoencephalopathy Clwm Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts Infantile-Onset Rnaset2 Deficient Cystic Leukoencephalopathy Lbatc LCWM
Leigh Syndrome With Leukodystrophy	Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy Leigh Disease With Leukodystrophy
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
Combined Oxidative Phosphorylation Deficiency 10	COXPD10 Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To Mto1 Deficiency Cardiomyopathy, Infantile Hypertrophic Mitochondrial, And Lactic Acidosis Infantile Hypertrophic Mitochondrial Cardiomyopathy And Lactic Acidosis Combined Oxidative Phosphorylation Defect Type 10 Cardiomyopathy Infantile Hypertrophic Mitochondrial And Lactic Acidosis Combined Oxidative Phosphorylation Deficiency, Type 10
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
Tomato Allergy	Solanum Lycopersicum Fruit Allergy
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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09127	NDUFA2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NDUFA2	RGD	RGD:1309997
Felis catus	NDUFA2	VGNC	VGNC:68437
Macaca mulatta	NDUFA2	VGNC	VGNC:110449
Mus musculus	NDUFA2	MGD	MGI:1343103
Canis familiaris	NDUFA2	VGNC	VGNC:43687
Others	NDUFA2	NCBI