NDUFS8 - NADH:ubiquinone oxidoreductase core subunit S8 Gene

Homo sapiens

Also known as TYKY; CI-23k; CI23KD; MC1DN2

Gene ID: 4728 | Gene type: protein coding

About NDUFS8

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:68,030,681-68,036,644 (from NCBI)

This gene has 15 transcripts (splice variants), 246 orthologues and is associated with 4 phenotypes. Ubiquitous expression in heart (RPKM 31.6), adrenal (RPKM 30.6) and 25 other tissues.

Summary

This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric Enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]

NDUFS8 Products(1)

mRNA	Protein	Name
NM_002496.4	NP_002487.1	NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
contributes to NADH dehydrogenase (ubiquinone) activity	IMP IMP: Inferred from mutant phenotype	9837812	GOA
enables NADH dehydrogenase (ubiquinone) activity	IMP IMP: Inferred from mutant phenotype	22499348	GOA
contributes to NADH dehydrogenase activity	IMP IMP: Inferred from mutant phenotype	14749350	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	31536960	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mitochondrial electron transport, NADH to ubiquinone	IMP IMP: Inferred from mutant phenotype	22499348	GOA
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	11112787	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	28844695	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	9666055	GOA
part of respiratory chain complex I	IDA IDA: Inferred from direct assay	12611891	GOA
part of respiratory chain complex I	IMP IMP: Inferred from mutant phenotype	11112787	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

NDUFS8 Protein Structure

Fer4_7

0
100
210 a.a.

Protein Preferred Names

Protein Names

NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial

NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)

Related Diseases

Diseases

Alias

Mitochondrial Complex Ii Deficiency, Nuclear Type 1

MC1DN2	MC2DN1
Succinate Coq Reductase Deficiency	Succinate Dehydrogenase Deficiency
Mitochondrial Complex I Deficiency, Nuclear Type 2	Mitochondrial Complex 1 Deficiency, Nuclear Type 2
Nuclear Type Mitochondrial Complex I Deficiency 2	Complex 2 Mitochondrial Respiratory Chain Deficiency
Complex Ii Mitochondrial Respiratory Chain Deficiency	Sdh-Defective Infantile Leukoencephalopathy

Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

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

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

Otosalpingitis

Eustachian Salpingitis	Eustachian Tube Salpingitis
Rhinosalpingitis	Tubotympanitis
Eustachian Tube Inflammation	Salpingitis Of Ear

Cardiomyopathy, Infantile Histiocytoid

Histiocytoid Cardiomyopathy	Foamy Myocardial Transformation Of Infancy
Infantile Histiocytoid Cardiomyopathy	Infantile Xanthomatous Cardiomyopathy
Oncocytic Cardiomyopathy	Cardiomyopathy, Infantile Xanthomatous
Cardiomyopathy, Focal Lipid	Cardiomyopathy, Oncocytic
Focal Lipid Cardiomyopathy	Infantile Cardiomyopathy With Histiocytoid Change
CMIH	Cardiomyopathy Focal Lipid
Cardiomyopathy Infantile Xanthomatous	Cardiomyopathy Oncocytic

Multiple Mitochondrial Dysfunctions Syndrome 3

MMDS3	Iba57 Deficiency
Multiple Mitochondrial Dysfunctions Syndrome Type 3	Mitochondrial Dysfunctions, Multiple, Syndrome, Type 3

Eustachian Tube Disease

Eustachian Tube Disorder	Auditory Tube Disorder
Disease Of Eustachian Tube	Eustachian Tube Dysfunction
Et- [Eustachian Tube Disorder]	Etd - [Eustachian Tube Dysfunction]

Leukodystrophy

Leukodystrophies

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

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

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-RS09164	NDUFS8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NDUFS8	VGNC	VGNC:31973
Rattus norvegicus	NDUFS8	RGD	RGD:1309436
Mus musculus	NDUFS8	MGD	MGI:2385079
Felis catus	NDUFS8	VGNC	VGNC:81974
Canis familiaris	NDUFS8	VGNC	VGNC:51883
Macaca mulatta	NDUFS8	VGNC	VGNC:101367

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