AMT - aminomethyltransferase Gene

Also Known as GCE; NKH; GCST; GCVT

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 275

About AMT

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:49,416,778-49,422,473 (from NCBI)

This gene has 57 transcripts (splice variants), 213 orthologues, 10 paralogues and is associated with 5 phenotypes. Ubiquitous expression in kidney (RPKM 16.6), liver (RPKM 14.9) and 25 other tissues.

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. [provided by RefSeq, Sep 2011]

AMT Products (4)

mRNA	Protein	Name
NM_000481.4	NP_000472.2	aminomethyltransferase, mitochondrial isoform 1 precursor
NM_001164710.2	NP_001158182.1	aminomethyltransferase, mitochondrial isoform 2 precursor
NM_001164711.2	NP_001158183.1	aminomethyltransferase, mitochondrial isoform 3 precursor
NM_001164712.2	NP_001158184.1	aminomethyltransferase, mitochondrial isoform 4 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables aminomethyltransferase activity	IMP IMP: Inferred from mutant phenotype	16051266	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in glycine decarboxylation via glycine cleavage system	IMP IMP: Inferred from mutant phenotype	16051266	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AMT Protein Structure

GCV_T

GCV_T_C

0
100
200
300
403 a.a.

Protein Preferred Names	Protein Names
aminomethyltransferase, mitochondrial	glycine cleavage system T protein

Related Diseases

Diseases	Alias
Glycine Encephalopathy	Non-Ketotic Hyperglycinemia Nonketotic Hyperglycinemia NKH GCE Hyperglycinemia, Nonketotic Hyperglycinemia Nonketotic Infantile Glycine Encephalopathy Encephalopathy, Glycine Glycine Synthase Deficiency Nka Neonatal Glycine Encephalopathy Classic Glycine Encephalopathy Neonatal Nkh Neonatal Non-Ketotic Hyperglycinemia Infantile Nkh Infantile Non-Ketotic Hyperglycinemia Non-Ketotic Hyperglycinaemia Glycine Cleavage Deficiency Nonketotic Hyperglycinaemia
Atypical Glycine Encephalopathy	Atypical Nka Atypical Non-Ketotic Hyperglycinemia
Carrion'S Disease	Oroya Fever Carrion Disease Bartonellosis Due To Bartonella Bacilliformis Infection Bartonella Infections Systemic Bartonellosis Due To Bartonella Bacilliformis Systemic Carrión Disease Systemic Bartonellosis Bartonella Fever
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy HIHGHH
Cutis Laxa, Autosomal Dominant 1	Cutis Laxa, Autosomal Dominant Autosomal Dominant Cutis Laxa ADCL1 Adcl Autosomal Dominant Cutis Laxa 1 Cutis Laxa, Autosomal Dominant, 1 Cutis Laxa, Autosomal Dominant, Type 1
Phosphoserine Aminotransferase Deficiency	Psat Deficiency PSATD Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form Psat Deficiency, Infantile/Juvenile Form Deficiency, Phosphoserine Aminotransferase
Pentosuria	Xylitol Dehydrogenase Deficiency L-Xylulosuria L-Xylulose Reductase Deficiency Essential Pentosuria PNTSU Essential Benign Pentosuria
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Cutis Laxa, Autosomal Dominant 3	ADCL3 Autosomal Dominant Cutis Laxa 3 Cutis Laxa, Autosomal Dominant, 3
Cystathioninuria	Cystathionase Deficiency Gamma-Cystathionase Deficiency Cystathione Gamma-Lyase Deficiency Syndrome Cystathionine Gamma-Lyase Deficiency Syndrome CSTNU
Thyroid Dyshormonogenesis 6	TDH6 Genetic Defect In Thyroid Hormonogenesis 6 Thyroid Hormonogenesis, Genetic Defect In, 6 Hypothyroidism, Congenital, Due To Dyshormonogenesis, 6 Chdh6 Congenital Hypothyroidism Due To Dyshormonogenesis Type 6
Cutis Laxa, Autosomal Dominant 2	ADCL2 Autosomal Dominant Cutis Laxa 2 Cutis Laxa, Autosomal Dominant, 2 Cutis Laxa, Autosomal Dominant, Type 2
Frank-Ter Haar Syndrome	Ter Haar Syndrome Borrone Dermatocardioskeletal Syndrome FTHS Autosomal Recessive Melnick-Needles Syndrome Borrone Di Rocco Crovato Syndrome Megalocornea, Multiple Skeletal Anomalies, And Developmental Delay Melnick-Needles Syndrome, Autosomal Recessive, Formerly Frank Ter Haar Syndrome
Sucrase-Isomaltase Deficiency, Congenital	Congenital Sucrase-Isomaltase Deficiency CSID Si Deficiency Congenital Sucrose Intolerance Disaccharide Intolerance Sucrase-Isomaltase Deficiency Disaccharide Intolerance I Congenital Sucrose-Isomaltose Malabsorption Sucrose-Isomaltose Malabsorption, Congenital Sucrose Intolerance, Congenital Congenital Sucrase-Isomaltose Malabsorption Congenital Sucrose-Isomaltase Malabsorption Disaccharide Intolerance, 1 Sucrose Intolerance Congenital Sucrose-Isomaltase Malabsorption, Congenital Disaccharidase Deficiency Invertase Deficiency Sucrase-Alpha-Dextrinase Deficiency Disaccharide Intolerance Type I Csid - [Congenital Sucrase-Isomaltase Deficiency] Sucrose Intolerance Of Newborn Sucrose Intolerance Sucrase Deficiency Disaccharide Malabsorption Intestinal Disaccharidase Deficiency
T-Cell Acute Lymphoblastic Leukemia	T-Cell Leukemia Acute T Cell Leukemia Precursor T Lymphoblastic Leukemia Precursor T-Lymphoblastic Lymphoma/Leukemia T Acute Lymphoblastic Leukemia T-Cell Acute Lymphocytic Leukaemia T-Cell Lymphoblastic Leukemia/Lymphoma Leukemia T-Cell Leukemia, T-Cell Leukemia, Acute, Lymphoblastic, T-Cell Leukemia, T-Cell Acute Lymphoblastic Leukemia, Acute T-Cell Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Precursor T-Cell Lymphoblastic Lymphoma Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-101251	AMT hydrochloride	Inhibitor	99.74%	Phase 4

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-150014	AMT-NHS		98.70%	Unkown
HY-171747	AMT-562		98.65%	Unkown
HY-103339	VDM11	Inhibitor	99.25%	Unkown
HY-117090	(rac)-AL-37350A	Agonist	/	Unkown
HY-178698	O-1812	Ligand	/	Unkown
HY-RS00670	AMT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08984	N6AMT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18111	Amt Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19793	N6amt1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24585	Amt Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26289	N6amt1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Bioactive MoleculesInhibitory Antibodies (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P991505	Anti-HER3 Antibody (Ab562)	Antagonist	99.63%	Unkown
HY-P992002	AMT-151 Antibody		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	AMT	MGD	MGI:3646700
Felis catus	AMT	VGNC	VGNC:101997
Rattus norvegicus	AMT	RGD	RGD:1359408
Canis familiaris	AMT	VGNC	VGNC:54572
Others	AMT	NCBI