dld Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description dihydrolipoamide dehydrogenase|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] (NCBI Entrez Gene Database, 1738)
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Genes

2 genes co-occuring with the biological term dld in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
DLD dihydrolipoamide dehydrogenase
FAM3A family with sequence similarity 3, member A