NDUFAF8 - NADH:ubiquinone oxidoreductase complex assembly factor 8 Gene

Homo sapiens

Also known as MC1DN34; C17orf89

Gene ID: 284184 | Gene type: protein coding

About NDUFAF8

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,239,311-81,241,310 (from NCBI)

This gene has 6 transcripts (splice variants), 158 orthologues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 16.9), kidney (RPKM 16.4) and 25 other tissues.

Summary

Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Implicated in nuclear type mitochondrial complex I deficiency 34. [provided by Alliance of Genome Resources, Apr 2022]

NDUFAF8 Products(3)

mRNA	Protein	Name
NM_001086521.2	NP_001079990.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 isoform 2
NM_001353402.1	NP_001340331.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 isoform 1
NM_001353403.1	NP_001340332.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27499296	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	27499296	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	37159021	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	27499296	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

Protein Preferred Names

Protein Names

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8

NDUFAF8 Protein-protein interaction Information

Type Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NDUFAF8	A1L188	NDUFAF5	Homo sapiens	Q5TEU4	Anti Tag CoIP	27499296
Intra	NDUFAF8	A1L188	NDUFAF5	Homo sapiens	Q5TEU4	Anti Tag CoIP	33961781
Intra	NDUFAF8	A1L188	NDUFAF5	Homo sapiens	Q5TEU4	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Mitochondrial Complex I Deficiency, Nuclear Type 34

MC1DN34	Mitochondrial Complex 1 Deficiency, Nuclear Type 34
Nuclear Type Mitochondrial Complex I Deficiency 34

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

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

Nuclear Type Mitochondrial Complex I Deficiency

Mc1dn	Mitochondrial Complex I Deficiency, Nuclear Type
Mitochondrial Complex I Deficiency, Nuclear

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

Pontocerebellar Hypoplasia, Type 10

Pontocerebellar Hypoplasia Type 10	PCH10
Clp1-Related Pontocerebellar Hypoplasia	Pontocerebellar Hypoplasia 10
Hypoplasia, Pontocerebellar, Type 10

Bilateral Frontal Polymicrogyria

Leukodystrophy

Leukodystrophies

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 Pre-designed Sets	Purity	Rare Diseases Unkown
HY-RS09143	NDUFAF8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	NDUFAF8	VGNC	VGNC:99187
Canis familiaris	NDUFAF8	VGNC	VGNC:43698
Rattus norvegicus	NDUFAF8	RGD	RGD:1590963
Bos taurus	NDUFAF8	VGNC	VGNC:106834
Mus musculus	NDUFAF8	MGD	MGI:1913676

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