NDUFA9 - NADH:ubiquinone oxidoreductase subunit A9 Gene

Homo sapiens

Also known as CC6; CI39k; COQ11; CI-39k; MC1DN26; NDUFS2L; SDR22E1

Gene ID: 4704 | Gene type: protein coding

About NDUFA9

Cytogenetic location: 12p13.32 Genomic coordinates (GRCh38): 12:4,649,114-4,694,317 (from NCBI)

This gene has 9 transcripts (splice variants), 197 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 54.9), colon (RPKM 38.4) and 25 other tissues.

Summary

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first Enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]

NDUFA9 Products(1)

mRNA	Protein	Name
NM_005002.5	NP_004993.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial precursor

NDUFA9 Protein Structure

Epimerase

0
100
200
300
377 a.a.

Protein Preferred Names

Protein Names

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial

CI-39kD

Related Diseases

Diseases

Alias

Mitochondrial Complex I Deficiency, Nuclear Type 26

MC1DN26	Mitochondrial Complex 1 Deficiency, Nuclear Type 26
Nuclear Type Mitochondrial Complex I Deficiency 26

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

Listeriosis

Listeria Infection	Infection By Listeria Monocytogenes
Listeria Monocytogenes Infection	Listeria Infections
Listerial Foodborne Infection	Circling Disease
Infection Due To Listeria Monocytogenes	Listerellosis

Listeria Meningitis

Meningitis, Listeria

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

Loeys-Dietz Syndrome 4

LDS4	Aneurysm, Aortic And Cerebral, With Arterial Tortuosity And Skeletal Manifestations
Loeys-Dietz Syndrome Type 4	Aortic And Cerebral Aneurysm With Arterial Tortuosity And Skeletal Manifestations
Loeys-Dietz Syndrome, Type 4

Leukodystrophy

Leukodystrophies

Myopathy

Muscular Diseases

Myopathies

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy	Leber Hereditary Optic Neuropathy
LHON	Leber'S Hereditary Optic Neuropathy
Leber Optic Atrophy, Susceptibility To	Leber'S Optic Atrophy
LOAM	Loas
Leber'S Disease	Leber'S Optic Neuropathy
Optic Atrophy, Hereditary, Leber	Lhon, Modifier Of
Optic Atrophy, Leber Type	Hereditary Optic Neuroretinopathy
Leber Hereditary Optic Atrophy	Loa
Optic Atrophy Leber Type	Leber Hereditary Optic Neuropathy, Modifier
Leber Hereditary Optic Neuropathy Susceptibility	Modifier Of Leber Hereditary Optic Neuropathy
Lebers Hereditary Optic Neuropathy	Leber Congenital Amaurosis

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-RS09135	NDUFA9 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NDUFA9	VGNC	VGNC:56233
Rattus norvegicus	NDUFA9	RGD	RGD:1307307
Mus musculus	NDUFA9	MGD	MGI:1913358
Macaca mulatta	NDUFA9	VGNC	VGNC:81480
Felis catus	NDUFA9	VGNC	VGNC:97524
Canis familiaris	NDUFA9	VGNC	VGNC:57343

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