GAMT (guanidinoacetate N-methyltransferase)

2014-11-01  

Identity

HGNC
LOCATION
19p13.3
LOCUSID
ALIAS
CCDS2,HEL-S-20,PIG2,TP53I2

Other Information

Locus ID:

NCBI: 2593
MIM: 601240
HGNC: 4136
Ensembl: ENSG00000130005

Variants:

dbSNP: 2593
ClinVar: 2593
TCGA: ENSG00000130005
COSMIC: GAMT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130005ENST00000252288Q14353
ENSG00000130005ENST00000252288V9HWB2
ENSG00000130005ENST00000447102Q14353
ENSG00000130005ENST00000591788K7EM34
ENSG00000130005ENST00000640762A0A1W2PR36

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Glycine, serine and threonine metabolismKEGGko00260
Arginine and proline metabolismKEGGko00330
Glycine, serine and threonine metabolismKEGGhsa00260
Arginine and proline metabolismKEGGhsa00330
Metabolic pathwaysKEGGhsa01100
Creatine pathwayKEGGhsa_M00047
Creatine pathwayKEGGM00047
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Creatine metabolismREACTOMER-HSA-71288
Metabolism of polyaminesREACTOMER-HSA-351202

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
191611602009An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).30
265422862015Creatine biosynthesis and transport in health and disease.20
211405032011Defining the pathogenicity of creatine deficiency syndrome.8
192885362009Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.3
193430462009Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.3
244156742014Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.3
260030462015Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.3
263195122016A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.3
171715762007Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy.2
230313652012Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.2

Citation

Dessen P

GAMT (guanidinoacetate N-methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63694/gamt