InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NDUFAF5

Summary

InnateDB Protein

IDBP-481786.4

Last Modified

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

Gene Symbol

NDUFAF5

Protein Name

chromosome 20 open reading frame 7

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000420497

InnateDB Gene

IDBG-54834 (NDUFAF5)

Protein Structure

UniProt Annotation

Function

Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages. May have methyltransferase activity. {ECO:0000269PubMed:18940309}.

Subcellular Localization

Mitochondrion inner membrane {ECO:0000269PubMed:18940309}. Note=Peripherally localized on the matrix face of the mitochondrial inner membrane.

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:18940309}. Note=The disease is caused by mutations affecting the gene represented in this entry.Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269PubMed:19542079}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.