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NDUFS6 - NADH:ubiquinone oxidoreductase subunit S6 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4726

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	References	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
HY-P81602A	NDUFS6 Antibody (YA1347)(PBS only)	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

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 Set	/	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
Others	NDUFS6	NCBI