1. Gene
  2. AMT - aminomethyltransferase Gene

AMT - aminomethyltransferase Gene

Homo sapiens

Also known as GCE; NKH; GCST; GCVT

Gene ID: 275 | Gene type: protein coding

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

AMT Protein Structure

GCV_T

GCV_T: Aminomethyltransferase folate-binding domain (78 - 291)

GCV_T_C

GCV_T_C: Glycine cleavage T-protein C-terminal barrel domain (301 - 392)

  • 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

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