Identity
HGNC
LOCATION
11q23.3
LOCUSID
ALIAS
G6PT1,G6PT2,G6PT3,GSD1b,GSD1c,GSD1d,PRO0685,TRG-19,TRG19
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: 2542
MIM: 602671
HGNC: 4061
Ensembl: ENSG00000137700
Variants:
dbSNP: 2542
ClinVar: 2542
TCGA: ENSG00000137700
COSMIC: SLC37A4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000137700 | ENST00000330775 | U3KPU7 |
| ENSG00000137700 | ENST00000357590 | U3KQS2 |
| ENSG00000137700 | ENST00000538950 | U3KQL4 |
| ENSG00000137700 | ENST00000545985 | U3KPU7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38087503 | 2023 | Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review. | 1 |
| 38087503 | 2023 | Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review. | 1 |
| 33280276 | 2021 | A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis. | 1 |
| 33964207 | 2021 | A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction. | 7 |
| 33280276 | 2021 | A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis. | 1 |
| 33964207 | 2021 | A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction. | 7 |
| 32005221 | 2020 | Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b). | 2 |
| 32005221 | 2020 | Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b). | 2 |
| 30951856 | 2019 | CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib. | 3 |
| 30951856 | 2019 | CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib. | 3 |
| 28685844 | 2018 | Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants. | 12 |
| 29238966 | 2018 | Aberrant proliferation and differentiation of glycogen storage disease type Ib mesenchymal stem cells. | 3 |
| 28685844 | 2018 | Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants. | 12 |
| 29238966 | 2018 | Aberrant proliferation and differentiation of glycogen storage disease type Ib mesenchymal stem cells. | 3 |
| 28224773 | 2017 | Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib. | 12 |
Citation
Dessen P
SLC37A4 (solute carrier family 37 member 4)
Atlas Genet Cytogenet Oncol Haematol. 2007-06-01
Online version: http://atlasgeneticsoncology.org/gene/47556/slc37a4
