Identity
HGNC
LOCATION
15q21.1
LOCUSID
ALIAS
AGAT,AT,CCDS3,FRTS1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2628
MIM: 602360
HGNC: 4175
Ensembl: ENSG00000171766
Variants:
dbSNP: 2628
ClinVar: 2628
TCGA: ENSG00000171766
COSMIC: GATM
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA133950441 | hmg coa reductase inhibitors | Chemical | ClinicalAnnotation | associated | PK | PD | |
| PA445019 | Myocardial Infarction | Disease | ClinicalAnnotation | associated | PK | PD | |
| PA451363 | simvastatin | Chemical | ClinicalAnnotation | associated | PK | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38452609 | 2024 | ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes. | 0 |
| 38452609 | 2024 | ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes. | 0 |
| 36148635 | 2023 | A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease. | 2 |
| 37286521 | 2023 | Association of Familial Fanconi Syndrome with a Novel GATM Variant. | 0 |
| 38104212 | 2023 | Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells. | 0 |
| 36148635 | 2023 | A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease. | 2 |
| 37286521 | 2023 | Association of Familial Fanconi Syndrome with a Novel GATM Variant. | 0 |
| 38104212 | 2023 | Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells. | 0 |
| 33051696 | 2021 | The association of GATM polymorphism with statin-induced myopathy: a systematic review and meta-analysis. | 3 |
| 33150478 | 2021 | Correlation between single-nucleotide polymorphisms and statin-induced myopathy: a mixed-effects model meta-analysis. | 2 |
| 34071541 | 2021 | Polymorphism in the GATM Locus Associated with Dialysis-Independent Chronic Kidney Disease but Not Dialysis-Dependent Kidney Failure. | 1 |
| 33051696 | 2021 | The association of GATM polymorphism with statin-induced myopathy: a systematic review and meta-analysis. | 3 |
| 33150478 | 2021 | Correlation between single-nucleotide polymorphisms and statin-induced myopathy: a mixed-effects model meta-analysis. | 2 |
| 34071541 | 2021 | Polymorphism in the GATM Locus Associated with Dialysis-Independent Chronic Kidney Disease but Not Dialysis-Dependent Kidney Failure. | 1 |
| 29654216 | 2018 | Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. | 28 |
Citation
Dessen P
GATM (glycine amidinotransferase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/55531/deep-insight-explorer/new-content/
