DLD

GENE INFORMATION

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Gene name

DLD (HGNC Symbol)

Synonyms

DLDH, GCSL, LAD

Description

Dihydrolipoamide dehydrogenase (HGNC Symbol)

Entrez gene 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]

Chromosome

7

Cytoband

q31.1

Chromosome location (bp)

107890970 - 107931730

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000091140 (version 78.38)

Entrez gene

1738

UniProt

P09622 (UniProt - Evidence at protein level)

neXtProt

NX_P09622

Antibodypedia

DLD antibodies
 

PROTEIN VIEW

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DLD-001
 
DLD-003
 
DLD-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DLD-001 ENSP00000205402
ENST00000205402
P09622
Show all »
Show » Show » 509 54.2 No 0
DLD-003 ENSP00000417016
ENST00000440410
E9PEX6
Show all »
Show » Show » 486 51.8 No 0
DLD-005 ENSP00000387542
ENST00000437604
P09622
Show all »
Show » Show » 461 49.3 No 0