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NDUFA8 - NADH:ubiquinone oxidoreductase subunit A8 Gene

Also Known as PGIV; CI-19KD; CI-PGIV; MC1DN37

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4702

About NDUFA8

Cytogenetic location: 9q33.2 Genomic coordinates (GRCh38): 9:122,132,466-122,159,779 (from NCBI)

This gene has 1 transcript (splice variant), 204 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 64.4), testis (RPKM 25.8) and 24 other tissues.

Summary

The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

NDUFA8 Products (2)

mRNA	Protein	Name
NM_001318195.2	NP_001305124.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 isoform 2
NM_014222.3	NP_055037.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21310150	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	23209302	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	27626371	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	28844695	GOA
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	21310150	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	23676665	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

NDUFA8 Protein Structure

CHCH

0
100
172 a.a.

Protein Preferred Names	Protein Names
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa

Related Diseases

Diseases	Alias
Mitochondrial Complex I Deficiency, Nuclear Type 37	MC1DN37 Mitochondrial Complex 1 Deficiency, Nuclear Type 37
Mitochondrial Dna Depletion Syndrome 9	MTDPS9 Fatal Infantile Lactic Acidosis Lactic Acidosis, Fatal Infantile, Formerly Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome 9 Encephalomyopathic Type With Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome, Type 9 Lactic Acidosis, Fatal Infantile
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
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
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
Myopathy	Muscular Diseases Myopathies
Leukodystrophy	Leukodystrophies
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09134	NDUFA8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20182	Ndufa8 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26686	Ndufa8 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NDUFA8	VGNC	VGNC:43690
Bos taurus	NDUFA8	VGNC	VGNC:31951
Felis catus	NDUFA8	VGNC	VGNC:68439
Rattus norvegicus	NDUFA8	RGD	RGD:1306283
Mus musculus	NDUFA8	MGD	MGI:1915625
Others	NDUFA8	NCBI