GCSH
Encyclopedia
Glycine cleavage system H protein, mitochondrial is a protein
that in humans is encoded by the GCSH gene
.
), which is confined to the mitochondria, is composed of 4 protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase
), H protein (a lipoic acid
-containing protein; this protein), T protein (a tetrahydrofolate-requiring aminomethyltransferase
enzyme), and L protein (a lipoamide dehydrogenase
). The H protein shuttles the methylamine group of glycine from the P protein to the T protein.
, also called nonketotic hyperglycinemia (NKH), may be due to a defect in any one of these enzymes.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the GCSH gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
The enzyme system for cleavage of glycine (glycine cleavage systemGlycine cleavage system
The glycine cleavage system is also known as the glycine decarboxylase complex or GCS. The system is a series of enzymes that are triggered in response to high concentrations of the amino acid glycine. The glycine cleavage system is composed of four proteins: the T-protein, P-protein, L-protein,...
), which is confined to the mitochondria, is composed of 4 protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase
Glycine dehydrogenase (decarboxylating)
Glycine dehydrogenase [decarboxylating], mitochondrial also known as glycine cleavage system P protein or glycine decarboxylase is an enzyme that in humans is encoded by the GLDC gene.- Reaction :...
), H protein (a lipoic acid
Lipoic acid
Lipoic acid , also known as α-lipoic acid and Alpha Lipoic Acid is an organosulfur compound derived from octanoic acid. LA contains two vicinal sulfur atoms attached via a disulfide bond and is thus considered to be oxidized...
-containing protein; this protein), T protein (a tetrahydrofolate-requiring aminomethyltransferase
Aminomethyltransferase
Aminomethyltransferase is an enzyme that catabolizes the creation of methylenetetrahydrofolate. It is part of the glycine decarboxylase complex....
enzyme), and L protein (a lipoamide dehydrogenase
Dihydrolipoamide dehydrogenase
Dihydrolipoamide dehydrogenase , also known as dihydrolipoyl dehydrogenase, mitochondrial, is an enzyme that in humans is encoded by the DLD gene. DLD is a flavoprotein enzyme that degrades lipoamide, and produces dihydrolipoamide....
). The H protein shuttles the methylamine group of glycine from the P protein to the T protein.
Clinical significance
Glycine encephalopathyD-Glyceric acidemia
D-Glyceric Acidemia is an inherited disease, in the category of inborn errors of metabolism. It is caused by a mutation in the gene GLYCTK, which encodes the for the enzyme glycerate kinase.-Pathophysiology:...
, also called nonketotic hyperglycinemia (NKH), may be due to a defect in any one of these enzymes.