GAMT
entrez
2593
canonical
uniprot
Q14353
canonical
ensembl
ENSG00000130005
resolver
ensp
ENSP00000252288
resolver
ensp
ENSP00000403536
resolver
genesymbol
GAMT
resolver
genesymbol
HEL-S-20
resolver
genesymbol_syn
GAMT
resolver
hgnc
HGNC:4136
resolver
uniprot
A8K0A0
resolver
uniprot
Q53Y34
resolver
uniprot
Q8WVJ1
resolver
uniprot
V9HWB2
resolver
uniprot_entry
GAMT_HUMAN
resolver
uniprot_entry
V9HWB2_HUMAN
resolver
uniprot_sec
A8K0A0
resolver
uniprot_sec
Q53Y34
resolver
uniprot_sec
Q8WVJ1
resolver
amino_acid_sequence
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQEAPIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLLKPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG
uniprot
proteins
disease_involvement
DISEASE: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]: An autosomal recessive disorder characterized by developmental delay and regression, intellectual disability, severe disturbance of expressive and cognitive speech, intractable seizures, movement disturbances, severe depletion of creatine and phosphocreatine in the brain, and accumulation of guanidinoacetic acid in brain and body fluids. {ECO:0000269|PubMed:12468279, ECO:0000269|PubMed:15108290, ECO:0000269|PubMed:15651030, ECO:0000269|PubMed:16293431, ECO:0000269|PubMed:16855203, ECO:0000269|PubMed:17101918, ECO:0000269|PubMed:17466557, ECO:0000269|PubMed:19388150, ECO:0000269|PubMed:23660394, ECO:0000269|PubMed:24415674, ECO:0000269|PubMed:26003046, ECO:0000269|PubMed:8651275}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.2
uniprot
proteins
function
FUNCTION: Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor (PubMed:24415674, PubMed:26003046, PubMed:26319512). Important in nervous system development (PubMed:24415674). {ECO:0000269|PubMed:24415674, ECO:0000269|PubMed:26003046, ECO:0000269|PubMed:26319512}.
uniprot
proteins
mass_dalton
26318
uniprot
proteins
pathway_participation
PATHWAY: Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 2/2.
uniprot
proteins
protein_family
Class I-like SAM-binding methyltransferase superfamily
uniprot
proteins
protein_family
RMT2 methyltransferase family
uniprot
proteins
pubmed
12468279
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15108290
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15651030
uniprot
proteins
pubmed
16293431
uniprot
proteins
pubmed
16855203
uniprot
proteins
pubmed
17101918
uniprot
proteins
pubmed
17466557
uniprot
proteins
pubmed
19388150
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23660394
uniprot
proteins
pubmed
24415674
uniprot
proteins
pubmed
26003046
uniprot
proteins
pubmed
26319512
uniprot
proteins
pubmed
8547310
uniprot
proteins
pubmed
8651275
uniprot
proteins
pubmed
9325156
uniprot
proteins
sequence_length
236
uniprot
proteins