Rabbit anti-Human DLDH/DLD Polyclonal Antibody

Uniprot Id

P09622

Target Species

Human

Target Name

DLD

Target Full Name

Dihydrolipoyl dehydrogenase, mitochondrial

Target Function

Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion. A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A. In monomeric form may have additional moonlighting function as serine protease. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction.

Target Involvement

Dihydrolipoamide dehydrogenase deficiency (DLDD)

Target Subcellular Location

Mitochondrion matrix. Nucleus. Cell projection, cilium, flagellum. Cytoplasmic vesicle, secretory vesicle, acrosome.

Target Protein Families

Class-I pyridine nucleotide-disulfide oxidoreductase family

Target Synonyms

E3; LAD; DLDD; DLDH; GCSL; PHE3; OGDC-E3; DLDH/DLD

Target Background

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.