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AMT - aminomethyltransferase
- Synonym(s) : GCST, glycine cleavage system protein T, NKH, nonketotic hyperglycinemia
- Previous symbols and names : aminomethyltransferase (glycine cleavage system protein T)
- Type : gene with protein product
- Chromosomal location : 3p21.31
- OMIM: 238310
- HGNC: 473
- UniProtKB: P48728
- Genatlas: AMT
- GenCC: AMT
- Ensembl: ENSG00000145020
- IUPHAR-DB: -
- Reactome: P48728
- LOVD: AMT
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Atypical glycine encephalopathy
ORPHA:289863 
- Disease-causing germline mutation(s) (loss of function) in Infantile glycine encephalopathy
ORPHA:289860 - Disease-causing germline mutation(s) (loss of function) in Neonatal glycine encephalopathy
ORPHA:289857
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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