Glycine cleavage system H protein, mitochondrial (abbreviated as GCSH) is a protein that in humans is encoded by the GCSHgene.[4][5][6] Degradation of glycine is brought about by the glycine cleavage system (GCS), which 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).[6] The H protein shuttles the methylamine group of glycine from the P protein to the T protein. The protein encoded by GCSH gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein.[7] Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[8] 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.[9]
^Fujiwara K, Okamura-Ikeda K, Hayasaka K, Motokawa Y (Apr 1991). "The primary structure of human H-protein of the glycine cleavage system deduced by cDNA cloning". Biochemical and Biophysical Research Communications. 176 (2): 711–6. doi:10.1016/S0006-291X(05)80242-6. PMID2025283.
^Kikuchi G (Jun 1973). "The glycine cleavage system: composition, reaction mechanism, and physiological significance". Molecular and Cellular Biochemistry. 1 (2): 169–87. doi:10.1007/bf01659328. PMID4585091. S2CID22516474.
^Zay A, Choy FY, Patrick C, Sinclair G (Jun 2011). "Glycine cleavage enzyme complex: molecular cloning and expression of the H-protein cDNA from cultured human skin fibroblasts". Biochemistry and Cell Biology. 89 (3): 299–307. doi:10.1139/o10-156. PMID21539457.
