InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NDUFA12

Summary

InnateDB Protein

IDBP-51493.5

Last Modified

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

Gene Symbol

NDUFA12

Protein Name

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000330737

InnateDB Gene

IDBG-51491 (NDUFA12)

Protein Structure

UniProt Annotation

Function

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

Subcellular Localization

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Disease Associations

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:21617257}. 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 20 experimentally validated interaction(s) in this database.

Experimentally validated
Total	20 [view]
Protein-Protein	20 [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
GO:0009055	electron carrier activity

Biological Process

GO:0006979	response to oxidative stress
GO:0007585	respiratory gaseous exchange
GO:0022904	respiratory electron transport chain
GO:0044237	cellular metabolic process
GO:0044281	small molecule metabolic process