background:
This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]
Function:
The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3).
Subcellular Location:
Mitochondrion.
Similarity:
Belongs to the alpha-ketoglutarate dehydrogenase family.
Database links:
Entrez Gene: 55526 Human
Entrez Gene: 209692 Mouse
SwissProt: Q96HY7 Human
SwissProt: A2ATU0 Mouse
Unigene: 104196 Human
Unigene: 71228 Human
Unigene: 222517 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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