Glycine cleavage system H protein, mitochondrial
Function
The glycine cleavage system catalyzes the degradation of glycine. The H protein (GCSH) shuttles the methylamine group of glycine from the P protein (GLDC) to the T protein (GCST). Has a pivotal role in the lipoylation of enzymes involved in cellular energetics such as the mitochondrial dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex (DLAT), and the mitochondrial dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex (DLST) (PubMed:36190515).
Involvement in disease
Multiple mitochondrial dysfunctions syndrome 7
MMDS7
An autosomal recessive disorder biochemically characterized by glycine accumulation in body fluids, including the cerebrospinal fluid, with an elevated cerebrospinal fluid/plasma glycine ratio. The broad clinical spectrum ranges from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, limited verbal communication, behavioral problems, seizures and variable movement problems. Death in infancy or early childhood may occur.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the GcvH family.
Cellular localization
- Mitochondrion
Alternative names
Lipoic acid-containing protein, GCSH