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DLD dihydrolipoamide dehydrogenase

Also known as: E3; LAD; DLDD; DLDH; GCSL; PHE3

Summary

This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Genomic context

Location:
7q31.1
Sequence:
Chromosome: 7; NC_000007.14 (107891107..107921198)
Total number of exons:
14

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