| Type | Description |
|---|---|
| Definition | solute carrier family 37 member 4 |
| Date | Results | Publications |
|---|---|---|
| 2019-08-03 12:20:00 | In SLC37A4 gene, 6 variants were detected. Three previously reported variants c.81T>A (p.Asn27Lys), c.162C>A (p.Ser54Arg) and c.1042_1043delCT (p.Leu348Valfs*53) accounted for 87% of all analyzed alleles. Computational, transcription studies and/or clinical presentation in patients confirmed pathogenic effect of 3 novel variants. | 28685844 |
| 2019-05-18 11:23:00 | Study established a cellular model system characterized by a deficiency of SLC37A4, which presents pathological manifestations of GSD Ib in the kidney. Expression analysis in a novel model system supports the hypothesis that renal dysfunction in the GSD Ib is partly due to the ER stress and increased apoptosis. | 30951856 |
| 2018-12-22 12:01:00 | Study demonstrates that G6PT is essential for proliferation and differentiation of adipose-derived mesenchymal stem cells , providing important insights into the GSD-Ib phenotypes. | 29238966 |
| 2017-12-02 10:52:00 | We report the MFRP-related ocular phenotype in three siblings with glycogen storage disease type 1b. Molecular genetic studies identified novel mutations in the MFRP and SLC37A4 genes. | 28511025 |
| 2017-03-18 12:05:00 | The most common mutation of SLC37A4 genes identified in Korean patients was c.443C>T (p.Ala148Val), accounting for 55.6% (5/9 patients) of all GSD Ib patients and 38.9% of the tested alleles | 28224773 |
| Type | IDs |
|---|---|
| Synonymous | G6PT1, G6PT2, G6PT3, GSD1b, GSD1c, GSD1d, PRO0685, TRG-19, TRG19 |
| Gene |
UniProtKB-ID:
G6PT1_HUMAN,
A8K0S7_HUMAN,
B4DUH2_HUMAN,
A0A024R3H9_HUMAN,
A0A024R3L1_HUMAN
UniprotKB:
O43826,
A8K0S7,
B4DUH2,
A0A024R3H9,
A0A024R3L1
UniParc:
UPI00017A7EAD,
UPI00015DA557,
UPI000002AA25,
UPI0000001C12
EMBL:
AK289642,
BC064563,
BC015650,
AF116864,
Y17864,
AF116862,
AF110819,
AF097831,
AY423732,
BC014663,
BC002400,
AF116863,
CH471065,
BC003589,
AF110820,
AK300646,
AF078163,
Y15409,
AF111852
Ensembl:
ENSG00000281500
KO:
hsa:2542
|
| Nucleutide sequences |
EMBL-CDS:
AAF16691.1,
AAH03589.1,
AAH15650.1,
AAH02400.1,
AAC72916.1,
EAW67432.1,
AAH64563.1,
AAF37736.1,
AAD13111.1,
AAH14663.1,
AAS00495.1,
CAA76898.1,
CAA75608.1,
AAF37735.1,
AAD19898.1,
BAF82331.1,
BAG62334.1,
EAW67435.1,
EAW67438.1,
EAW67433.1,
EAW67439.1
Gene_ORFName:
PRO0685,
TRG19,
hCG_38437,
hCG_38437
Ensembl_TRS:
ENST00000645735,
ENST00000642844
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000493469,
ENSP00000495653
RefSeq:
NP_001157751.1,
NP_001157750.1,
NP_001157752.1,
NP_001458.1,
NP_001157749.1
|
| Others |
UniRef100:
UniRef100_A8K0S7,
UniRef100_O43826,
UniRef100_A0A024R3L1
UniRef90:
UniRef90_O43826
UniRef50:
UniRef50_O43826
UniGene:
Hs.719203
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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