| Type | Description |
|---|---|
| Definition | guanidinoacetate N-methyltransferase |
| Date | Results | Publications |
|---|---|---|
| 2020-02-01 11:07:00 | Here, we report 9 and 10-year-old cousins with GAMT deficiency caused by a novel mutation who both exhibited neurodevelopmental retardation, seizures, behavioral problems, and autism that began during early infancy. A novel nonsense mutation in the GAMT gene that caused cessation of synthesis of the protein encoded by this gene was identified in these patients. | 31559727 |
| 2019-10-05 12:44:00 | We unveil PFN2 and GAMT as molecular determinants of Charcot-Marie-Tooth type 2 neuropathy, with possible indications of the role of PFN2 in the pathogenesis and disease progression. | 29449460 |
| 2017-12-16 12:18:00 | Measurements of creatine and guanidinoacetate in plasma are recommended for the diagnosis of AGAT and GAMT deficiency.Definitive confirmation of the diagnosis requires DNA sequencing of the appropriate gene and (if molecular analysis is ambiguous) measurement of AGAT or GAMT enzyme activity or of CRTR-mediated transport | 28055022 |
| 2016-12-17 10:09:00 | Data suggest that creatine is provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvement of arginine glycine amidinotransferase [AGAT] and guanidinoacetate methyl transferase [GAMT]. [REVIEW] | 26542286 |
| 2016-03-05 11:04:00 | As early diagnosis results in normal neurodevelopmental outcome, GAMT deficiency should be included in newborn screening programs to diagnose individuals at the asymptomatic stage of the disease | 26003046 |
| Type | IDs |
|---|---|
| Synonymous | CCDS2, HEL-S-20, PIG2, TP53I2 |
| Gene |
UniProtKB-ID:
GAMT_HUMAN,
V9HWB2_HUMAN
UniprotKB:
Q14353,
V9HWB2
UniParc:
UPI0000161182,
UPI000012B0CC
EMBL:
AF010248,
AF188893,
BC016760,
AK289465,
BC017936,
CH471139,
AF010247,
BT007034,
Z49878,
EU794612,
AF010246,
AC005329
Ensembl:
ENSG00000130005
KO:
hsa:2593
|
| Nucleutide sequences |
EMBL-CDS:
AAH16760.1,
AAH17936.1,
AAP35682.1,
EAW69505.1,
CAA90035.1,
AAC27668.1,
AAF01461.1,
AAD04781.1,
BAF82154.1,
EAW69506.1,
ACJ13666.1
Gene_ORFName:
hCG_21569
Ensembl_TRS:
ENST00000447102,
ENST00000252288
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000403536,
ENSP00000252288
RefSeq:
NP_620279.1,
NP_000147.1
|
| Others |
UniRef100:
UniRef100_Q14353
UniRef90:
UniRef90_Q14353
UniRef50:
UniRef50_Q14353
UniGene:
Hs.81131
CCDS:
CCDS45897.1,
CCDS12064.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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