InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NDUFAF2

Summary

InnateDB Protein

IDBP-23039.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NDUFAF2

Protein Name

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000296597

InnateDB Gene

IDBG-23037 (NDUFAF2)

Protein Structure

UniProt Annotation

Function

Acts as a molecular chaperone for mitochondrial complex I assembly. {ECO:0000269PubMed:16200211}.

Subcellular Localization

Mitochondrion {ECO:0000269PubMed:15774466}.

Disease Associations

Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. {ECO:0000269PubMed:16200211}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in ESCC cells. Also expressed in heart, skeletal muscle, liver, and in fibroblasts. {ECO:0000269PubMed:15774466, ECO:0000269PubMed:16200211}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008137	NADH dehydrogenase (ubiquinone) activity

Biological Process

GO:0022904	respiratory electron transport chain
GO:0045333	cellular respiration
GO:0061179	negative regulation of insulin secretion involved in cellular response to glucose stimulus
GO:0072593	reactive oxygen species metabolic process