Gene: AMT

Alternate names for this Gene: GCE|GCST|GCVT|NKH

Gene Summary: This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: aminomethyltransferase

Type of Gene: protein-coding

rs4855873 in AMT gene and Crohn Disease PMID 17804789 2007 Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.

rs11715915 in AMT gene and Fasting blood glucose measurement PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs11715915 in AMT gene and Fasting blood sugar result PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs1126422 in AMT gene and Nonketotic Hyperglycinemia PMID 28244183 2017 Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

PMID 16051266 2005 Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.

PMID 27362913 2017 The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

PMID 26371980 2016 A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy.

PMID 10873393 2000 Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

PMID 11286506 2001 Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).

PMID 15272469 2004 Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update.

PMID 26179960 2015 Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

PMID 9621520 1998 A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.

PMID 9600239 1998 A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.

PMID 8005589 1994 Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.

PMID 16450403 2006 Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.

PMID 25231368 2014 Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.

PMID 23352163 2013 Using whole-exome sequencing to identify inherited causes of autism.

PMID 12948742 2003 Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).

PMID 27164344 2016 Nonketotic hyperglycinemia: novel mutation in the aminomethyl transferase gene. Case report.

PMID 22261077 2012 Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia.

PMID 11139253 2001 Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.

PMID 29300369 2018 Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.