| Type | Description |
|---|---|
| Definition | galactose-1-phosphate uridylyltransferase |
| Date | Results | Publications |
|---|---|---|
| 2020-09-19 16:24:00 | Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants. | 31194895 |
| 2019-12-28 11:41:00 | Biallelic pathogenic variants in the GALT gene are associated with galactosemia. | 31194682 |
| 2019-08-03 12:34:00 | This review summarizes the current knowledge of galactosemia, in particular the putative mechanisms of neonatal and long-term complications and the molecular genetics of GALT deficiency. | 28374897 |
| 2019-06-22 11:48:00 | Although all individuals in this study showed markedly reduced RBC GALT activity, we observed significant differences in RBC GAL1P concentrations among galactosemia genotypes. | 30172461 |
| 2019-01-26 11:55:00 | Study found no statistically significant difference in the occurrence of the GALT gene mutation between Indian patients with idiopathic presenile cataract and controls. | 28816213 |
| Type | IDs |
|---|---|
| Gene |
UniProtKB-ID:
GALT_HUMAN,
B2RAT6_HUMAN,
A0A0S2Z3Y7_HUMAN
UniprotKB:
P07902,
B2RAT6,
A0A0S2Z3Y7
UniParc:
UPI000012B073,
UPI0000D4EA6F,
UPI000175071C
EMBL:
L46361,
L46694,
L46708,
CH471071,
L46703,
L46691,
L46715,
L46363,
M60091,
L46365,
L46693,
L46360,
L46717,
L46711,
L46699,
M96264,
L46704,
L46692,
L46706,
L46364,
KU178089,
AL450283,
AL162231,
L46716,
L46713,
L46359,
AK303279,
L46707,
L46362,
L46712,
L46710,
L46714,
L46709,
AK314340,
L46705,
L46698,
BT009852,
BC015045
Ensembl:
ENSG00000213930
KO:
hsa:2592
|
| Nucleutide sequences |
EMBL-CDS:
AAB59608.1,
AAB59592.1,
AAB59588.1,
AAB59589.1,
AAB59584.1,
AAB59606.1,
AAB59607.1,
AAB59591.1,
AAB59597.1,
AAB59593.1,
AAB59599.1,
AAA81546.1,
AAC83409.1,
AAB59595.1,
AAH15045.1,
AAB59590.1,
BAG64359.1,
EAW58428.1,
AAB59594.1,
AAB59587.1,
AAB59596.1,
AAB59598.1,
AAB59600.1,
AAB59585.1,
AAB59605.1,
AAB59604.1,
AAP88854.1,
AAB59601.1,
AAB59578.1,
AAA81545.1,
AAA81544.1,
AAB59603.1,
AAA74450.1,
AAB59586.1,
BAG36983.1,
ALQ33547.1
Ensembl_TRS:
ENST00000378842,
ENST00000450095
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000401956,
ENSP00000368119
RefSeq:
NP_000146.2,
NP_001245261.1
|
| Others |
UniRef100:
UniRef100_P07902,
UniRef100_B2RAT6
UniRef90:
UniRef90_P07902
UniRef50:
UniRef50_P07902
UniGene:
Hs.522090
CCDS:
CCDS6565.1,
CCDS59122.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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