Entrez gene ID | | 275 |
Official gene symbol | | AMT |
Full name | | aminomethyltransferase |
Aliases | | ,GCE,GCST,GCVT,NKH, |
Gene summary | | The enzyme system for cleavage of glycine (glycine cleavage system; EC 2.1.2.10), which is confined to the mitochondria, is composed of 4 protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase; GLDC, MIM 238300), H protein (a lipoic acid-containing protein; GCSH, MIM 238330), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase; DLD, MIM 238331). Mutations in the T, P, and H proteins have been found to cause glycine encephalopathy (GCE; MIM 605899).[supplied by OMIM] |
Location | | Chromosome: 3 Locus: 3p21.2-p21.1 |
Gene position | | 49460111 - 49454211 Map Viewer |
Gene orientation | | minus |
Gene size | | 5901 bp |
Gene sequence |
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OMIM ID | | 238310 |
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