Aliases for GCSH Gene
External Ids for GCSH Gene
Previous GeneCards Identifiers for GCSH Gene
Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]
GeneCards Summary for GCSH Gene
GCSH (Glycine Cleavage System Protein H) is a Protein Coding gene. Diseases associated with GCSH include Glycine Encephalopathy and Atypical Glycine Encephalopathy. Among its related pathways are Carbon metabolism and Glycine, serine and threonine metabolism. Gene Ontology (GO) annotations related to this gene include enzyme binding and aminomethyltransferase activity. An important paralog of this gene is ENSG00000260643.
UniProtKB/Swiss-Prot Summary for GCSH Gene
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).