NP_001245267.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
7,173 Da
NCBI Official Full Name
NADH dehydrogenase
NCBI Official Synonym Full Names
NADH:ubiquinone oxidoreductase subunit A12
NCBI Official Synonym Symbols
NCBI Protein Information
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12
UniProt Protein Name
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12
UniProt Synonym Protein Names
13 kDa differentiation-associated protein; Complex I-B17.2; CI-B17.2; CIB17.2; NADH-ubiquinone oxidoreductase subunit B17.2
UniProt Synonym Gene Names
UniProt Entry Name
NDUAC_HUMAN
NCBI Summary for NDUFA12
This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
UniProt Comments for NDUFA12
NDUFA12: 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. Defects in NDUFA12 are the cause of Leigh syndrome (LS). 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. Belongs to the complex I NDUFA12 subunit family.
Protein type: EC 1.6.5.3; Mitochondrial; EC 1.6.99.3; Oxidoreductase
Chromosomal Location of Human Ortholog: 12q22
Cellular Component: mitochondrial inner membrane; mitochondrial respiratory chain complex I
Biological Process: mitochondrial electron transport, NADH to ubiquinone; mitochondrial respiratory chain complex I assembly; response to oxidative stress
Disease: Leigh Syndrome
Research Articles on NDUFA12
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Pathways associated with anti-NDUFA12 antibody
Diseases associated with anti-NDUFA12 antibody
Organs/Tissues associated with anti-NDUFA12 antibody
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