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NDUFS8 - NADH:ubiquinone oxidoreductase core subunit S8 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4728

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	References	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	References	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	References	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
200
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)

NDUFS8 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81607	NDUFS8 Antibody (YA1352)	WB	Mouse, Rat
HY-P81607A	NDUFS8 Antibody (YA1352)(PBS only)	WB	Mouse, Rat

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

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 Set	/	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
Others	NDUFS8	NCBI