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Rabbit Anti-DAP13/FITC Conjugated antibody
background:
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]
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 Location:
Mitochondrion inner membrane.
DISEASE:
Defects in NDUFA12 are the cause of 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.
Similarity:
Belongs to the complex I NDUFA12 subunit family.
Database links:
Entrez Gene: 55967 Human
Entrez Gene: 281742 Cow
Entrez Gene: 66414 Mouse
Entrez Gene: 299739 Rat
Omim: 614530 Human
SwissProt: O97725 Cow
SwissProt: Q9UI09 Human
SwissProt: Q7TMF3 Mouse
Unigene: 506374 Human
Unigene: 27886 Mouse
Unigene: 461501 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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