NDUFA12 Summary

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]

NDUFA12 Details

Gene Symbol : NDUFA12

Gene Name : NADH:ubiquinone oxidoreductase subunit A12

Chromosome : CHR 12: 950,037,12-949,713,27

Locus : 12q22

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ANKS1B Summary

This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]

ANKS1B Details

Gene Symbol : ANKS1B

Gene Name : Ankyrin repeat and sterile alpha motif domain containing 1B

Chromosome : CHR 12: 999,847,26-987,299,03

Locus : 12q23.1

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