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
Gene: NICN1
Alternate names for this Gene: -
Gene Summary: This protein encoded by this gene localizes to the nucleus and is expressed in numerous tissues including brain, testis, liver, and kidney. This refseq contains genomic sequence in its 3' UTR which is not supported by experimental evidence. Computer predictions indicate that this region of the 3' UTR contains hairpin-forming self-complementary sequence which is possibly excised after transcription. This gene has a pseudogene on chromosome X.
Gene is located in Chromosome: 3
Location in Chromosome : 3p21.31
Description of this Gene: nicolin 1
Type of Gene: protein-coding
rs121964983 in
AMT;NICN1 gene and
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 28244183 2017 Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
PMID 9600239 1998 Genotype analyses of 26 family members confirmed that the homozygous H42R mutation was completely associated with the onset of NKH.
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 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 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 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 26179960 2015 Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.