AMT
entrez
275
canonical
uniprot
P48728
canonical
ensembl
ENSG00000145020
resolver
ensp
ENSP00000273588
resolver
ensp
ENSP00000378747
resolver
ensp
ENSP00000415619
resolver
ensp
ENSP00000489758
resolver
genesymbol
AMT
resolver
genesymbol_syn
GCST
resolver
hgnc
HGNC:473
resolver
uniprot
A8K3I5
resolver
uniprot
B4DE61
resolver
uniprot
B4DJQ0
resolver
uniprot
E9PBG1
resolver
uniprot
Q96IG6
resolver
uniprot_entry
GCST_HUMAN
resolver
uniprot_sec
A8K3I5
resolver
uniprot_sec
B4DE61
resolver
uniprot_sec
B4DJQ0
resolver
uniprot_sec
E9PBG1
resolver
uniprot_sec
Q96IG6
resolver
amino_acid_sequence
MQRAVSVVARLGFRLQAFPPALCRPLSCAQEVLRRTPLYDFHLAHGGKMVAFAGWSLPVQYRDSHTDSHLHTRQHCSLFDVSHMLQTKILGSDRVKLMESLVVGDIAELRPNQGTLSLFTNEAGGILDDLIVTNTSEGHLYVVSNAGCWEKDLALMQDKVRELQNQGRDVGLEVLDNALLALQGPTAAQVLQAGVADDLRKLPFMTSAVMEVFGVSGCRVTRCGYTGEDGVEISVPVAGAVHLATAILKNPEVKLAGLAARDSLRLEAGLCLYGNDIDEHTTPVEGSLSWTLGKRRRAAMDFPGAKVIVPQLKGRVQRRRVGLMCEGAPMRAHSPILNMEGTKIGTVTSGCPSPSLKKNVAMGYVPCEYSRPGTMLLVEVRRKQQMAVVSKMPFVPTNYYTLK
uniprot
proteins
disease_involvement
DISEASE: Glycine encephalopathy 2 (GCE2) [MIM:620398]: A form of glycine encephalopathy, a metabolic disorder characterized by a high concentration of glycine in the body fluids. Affected individuals typically have severe neurological symptoms, including seizure, lethargy, and muscular hypotonia soon after birth. Most of them die within the neonatal period. Atypical cases have later disease onset and less severely affected psychomotor development. {ECO:0000269|PubMed:10873393, ECO:0000269|PubMed:11286506, ECO:0000269|PubMed:16051266, ECO:0000269|PubMed:26371980, ECO:0000269|PubMed:28244183, ECO:0000269|PubMed:8005589, ECO:0000269|PubMed:9600239, ECO:0000269|PubMed:9621520}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.2.10
uniprot
proteins
function
FUNCTION: The glycine cleavage system catalyzes the degradation of glycine. {ECO:0000269|PubMed:16051266}.
uniprot
proteins
mass_dalton
43946
uniprot
proteins
mutagenesis
MUTAGEN 129; /note="D->A,N: Loss of aminomethyltransferase activity."; /evidence="ECO:0000269|PubMed:16051266
uniprot
proteins
protein_family
GcvT family
uniprot
proteins
pubmed
10873393
uniprot
proteins
pubmed
11286506
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16051266
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
26371980
uniprot
proteins
pubmed
28244183
uniprot
proteins
pubmed
7916605
uniprot
proteins
pubmed
8005589
uniprot
proteins
pubmed
8188235
uniprot
proteins
pubmed
9600239
uniprot
proteins
pubmed
9621520
uniprot
proteins
sequence_length
403
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305|PubMed:16051266}.
uniprot
proteins