Description: Homo sapiens dihydrolipoamide dehydrogenase (DLD), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_000108): 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]. Transcript (Including UTRs) Position: hg19 chr7:107,531,586-107,561,643 Size: 30,058 Total Exon Count: 13 Strand: + Coding Region Position: hg19 chr7:107,531,696-107,559,704 Size: 28,009 Coding Exon Count: 13
ID:E9PEX6_HUMAN DESCRIPTION: SubName: Full=Dihydrolipoyl dehydrogenase, mitochondrial; CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
Alzheimer's Disease Brown, A. M. et al. 2004, Association of the dihydrolipoamide dehydrogenase gene with Alzheimer's disease in an Ashkenazi Jewish population., American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Nov;131(1):60-6.
[PubMed 15389771]
The DLD genotype appears to operate independently of APOE in conferring AD risk.
P-Selectin Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903293]
The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.
P-Selectin Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903293]
The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on E9PEX6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
