NDUFA2 - NADH:ubiquinone oxidoreductase subunit A2 Gene

Homo sapiens

Also known as B8; CD14; CIB8; MC1DN13

Gene ID: 4695 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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

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