Entrez gene ID | | 2653 |
Official gene symbol | | GCSH |
Full name | | glycine cleavage system protein H (aminomethyl carrier) |
Aliases | | ,GCE,NKH, |
Gene summary | | 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. |
Location | | Chromosome: 16 Locus: 16q23.2 |
Gene position | | 81129980 - 81115552 Map Viewer |
Gene orientation | | minus |
Gene size | | 14429 bp |
Gene sequence |
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OMIM ID | | 238330 |
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