DLD

This gene encodes the L protein of the mitochondrial glycine cleavage system. The L protein, also named dihydrolipoamide dehydrogenase, is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. [provided by RefSeq]

dihydrolipoamide dehydrogenase

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) (PubMed:15712224, PubMed:16442803, PubMed:16770810, PubMed:17404228, PubMed:20160912, PubMed:20385101).

The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711).

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 (PubMed:29211711).

In monomeric form may have additional moonlighting function as serine protease (PubMed:17404228).

Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction (By similarity).

2-oxoglutarate metabolic process Source: Ensembl
Aging Source: Ensembl
Cell redox homeostasis Source: InterPro
Dihydrolipoamide metabolic process Source: Ensembl
Gastrulation Source: Ensembl
Histone succinylation Source: UniProtKB
Lipoate metabolic process Source: Ensembl
Mitochondrial acetyl-CoA biosynthetic process from pyruvate Source: MGI
Mitochondrial electron transport, NADH to ubiquinone Source: Ensembl
Proteolysis Source: Ensembl
Regulation of membrane potential Source: Ensembl
Sperm capacitation Source: Ensembl

Mitochondrion matrix; Nucleus; Flagellum; Acrosome. Mainly localizes in the mitochondrion. A small fraction localizes to the nucleus, where the 2-oxoglutarate dehydrogenase complex is required for histone succinylation.

Dihydrolipoamide dehydrogenase deficiency (DLDD):
An autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism.

Tyrosine phosphorylated.