LP193286-4

DLD gene

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Description

The DLD (dihydrolipoamide dehydrogenase) gene [HGNC Gene ID: 2898] is located on chromosome 7q31-q32. 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 Gene ID: 1738] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name

DLD gene

Part Display Name

DLD gene

Part Type

Component (Describes the core component or analyte measured)

Created On

2015-06-04

Construct for LOINC Short Name

DLD gene

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