NDUFS6 - NADH:ubiquinone oxidoreductase subunit S6 Gene

Homo sapiens

Also known as MC1DN9; CI-13kA; CI13KDA; CI-13kD-A

Gene ID: 4726 | Gene type: protein coding

About NDUFS6

Cytogenetic location: 5p15.33 Genomic coordinates (GRCh38): 5:1,801,407-1,816,048 (from NCBI)

This gene has 3 transcripts (splice variants), 210 orthologues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 56.7), kidney (RPKM 56.2) and 25 other tissues.

Summary

This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first Enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009]

NDUFS6 Products(1)

mRNA	Protein	Name
NM_004553.6	NP_004544.1	NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial precursor

Gene Ontology

Cellular Component

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

NDUFS6 Protein Structure

zf-CHCC

0
100
124 a.a.

Protein Preferred Names

Protein Names

NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial

NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)

NDUFS6 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81602	NDUFS6 Antibody (YA1347)	WB, IP	Human, Mouse, Rat, Hamster

Related Diseases

Diseases

Alias

Mitochondrial Complex I Deficiency, Nuclear Type 9

MC1DN9	Mitochondrial Complex 1 Deficiency, Nuclear Type 9
Nuclear Type Mitochondrial Complex I Deficiency 9

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

Intellectual Developmental Disorder, Autosomal Dominant 48

Mental Retardation, Autosomal Dominant 48	MRD48
Autosomal Dominant Mental Retardation 48	Autosomal Dominant Intellectual Developmental Disorder 48

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

Chromosome 22q11.2 Duplication Syndrome

Chromosome 22q11.2 Microduplication Syndrome	22q11.2 Microduplication Syndrome
22q11.2 Duplication Syndrome	Duplication 22q11.2
Trisomy 22q11.2	22q11.2 Duplication
Dup(22)(Q11)

Leukodystrophy

Leukodystrophies

Cri-Du-Chat Syndrome

5p Deletion Syndrome	5p Partial Monosomy Syndrome
Monosomy 5p	Cat Cry Syndrome
Chromosome 5p Deletion Syndrome	Cri Du Chat Syndrome
5p- Syndrome	5p Minus Syndrome
Chromosome 5p- Syndrome	Chromosome 5 Short Arm Deletion Syndrome
Chromosome 5p Deletion	Deletion 5p
Cri Du Chat	5p Partial Deletion Syndrome
Partial Deletion Of Short Arm Of Chromosome 5 Syndrome

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-RS09162	NDUFS6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NDUFS6	VGNC	VGNC:31971
Canis familiaris	NDUFS6	VGNC	VGNC:43709
Mus musculus	NDUFS6	MGD	MGI:107932
Macaca mulatta	NDUFS6	VGNC	VGNC:75298
Rattus norvegicus	NDUFS6	RGD	RGD:3156

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