Also known as aminomethyltransferase, GCE, GCST, GCVT, NKH
Aminomethyltransferase is an enzyme that catabolizes the creation of methylenetetrahydrofolate. It is part of the glycine decarboxylase complex.
Gene data
AMT- Name
- aminomethyltransferase
- Type
- protein-coding
- Position
- 49,416,778–49,422,685 (−)
- Aliases
- GCE, GCE2, GCST, GCVT, NKH
- Ensembl
- ENSG00000145020
- RefSeq RNA
- NM_000481.4, NM_001164710.2, NM_001164711.2, NM_001164712.2, NR_028435.2
- RefSeq protein
- NP_000472.2, NP_001158182.1, NP_001158183.1, NP_001158184.1
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. [provided by RefSeq, Sep 2011].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
aminomethyltransferase
- Symbol
- AMT
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:49,416,771-49,422,685
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- AMT-Aminomethiltransferase.jpg
Show 5 more facts
- HomoloGene ID
- 409
- exact match
- identifiers.org/ncbigene/275
- genomic end
- 49422685
- genomic start
- 49416778
- cytogenetic location
- 3p21.31
Sources (8)
via Wikidata · CC0
~4 min read
Article
5 sectionsContents
- Structure
- Function
- Clinical significance
- References
- External links
Aminomethyltransferase is an enzyme that catabolizes the creation of methylenetetrahydrofolate. It is part of the glycine decarboxylase complex.
==Structure== The gene is about 6 kb in length and consists of nine exons. The 5′-flanking region of the gene lacks typical TATAA sequence but has a single defined transcription initiation site detected by the primer extension method. Two putative glucocorticoid-responsive elements and a putative thyroid hormone-responsive element are present. The AMT gene has been localized to 3p21.2-p21.1 by fluorescence in situ hybridization. The 1209 base pair open reading frame encodes 403 amino acid precursor protein, and the deduced amino acid sequence of the mature peptide shows 90 and 68% homology to that of bovine and chicken counterpart, respectively.