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NDUFAF8 - NADH:ubiquinone oxidoreductase complex assembly factor 8 Gene

Also Known as MC1DN34; C17orf89

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 284184

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27499296	GOA

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

Cellular Component GO Annotation	Evidence	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09143	NDUFAF8 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	NDUFAF8	NCBI