| Type | Description |
|---|---|
| Definition | glycine amidinotransferase |
| Date | Results | Publications |
|---|---|---|
| 2019-09-07 11:34:00 | Here, we provide genetic, histologic, cell biologic, and structural evidence for the association between monoallelic GATM mutations and a genetic disorder characterized by renal Fanconi syndrome and progressive kidney failure. | 29654216 |
| 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 |
| 2017-12-16 12:06:00 | Results show the functional characterization of rare missense variants in GATM which cause GATM deficiency. Seven of them report 0% of wild-type GATM activity indicating a putative pathogenicity. | 27233232 |
| 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 |
| 2016-10-01 12:25:00 | AGAT deficiency is a treatable intellectual disability. | 26490222 |
| Type | IDs |
|---|---|
| Synonymous | AGAT, AT, CCDS3 |
| Gene |
UniProtKB-ID:
GATM_HUMAN,
A0A140VK19_HUMAN
UniprotKB:
P50440,
A0A140VK19
UniParc:
UPI00004088CD,
UPI0000111EFD,
UPI000002AA37
EMBL:
HM005559,
BC004141,
AK223585,
AK298350,
AK294995,
X86401,
AC025580,
S68805
Ensembl:
ENSG00000171766
KO:
hsa:2628
|
| Nucleutide sequences |
EMBL-CDS:
CAA60153.1,
AAB29892.1,
BAG60595.1,
BAG58060.1,
BAD97305.1,
AAH04141.1,
AEE61156.1
Ensembl_TRS:
ENST00000396659,
ENST00000558336
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000454008,
ENSP00000379895
RefSeq:
NP_001473.1,
NP_001307944.1
|
| Others |
UniRef100:
UniRef100_P50440
UniRef90:
UniRef90_P50440
UniRef50:
UniRef50_P50440
UniGene:
Hs.75335
CCDS:
CCDS10122.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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