| Type | Description |
|---|---|
| Definition | beta-1,4-galactosyltransferase 7 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-20 10:50:00 | The findings in this family expand the clinical phenotype of B4GALT7-related linkeropathies to include perinatal lethal skeletal dysplasia | 31278392 |
| 2020-02-29 12:19:00 | Define some of the clinical features of B4GALT7 and B3GALT6-related conditions and underlined the extreme hypermobility of distal joints and the soft, doughy skin on the hands and feet as features that may be useful as the first clues for a correct diagnosis. | 31614862 |
| 2017-10-28 10:56:00 | The phenotypes described in this article caused by bi-allelic mutations in B4GALT7 would benefit from reclassification and loss of its current association with PEDS. These conditions would be better grouped with the other linkeropathies. | 26940150 |
| 2015-08-08 11:22:00 | Our findings demonstrate that B4GALT7 is the causative gene for LRS. The identification of a unique homozygous mutation argues in favor of a founder effect. B4GALT7 encodes a galactosyltransferase. | 24755949 |
| 2015-07-04 16:19:00 | identified two key structural features forming stacking interactions with the aglycone, and the hydrogen bond between the His(195) nitrogen backbone and the carbonyl group of the coumarinyl molecule to develop a tight binder of hbeta4GalT7 | 25568325 |
| Type | IDs |
|---|---|
| Synonymous | EDSP1, EDSSLA, EDSSPD1, XGALT1, XGPT, XGPT1 |
| Gene |
UniProtKB-ID:
B4GT7_HUMAN,
B3KMT1_HUMAN
UniprotKB:
Q9UBV7,
B3KMT1
UniParc:
UPI000015F4A1,
UPI00000361E1
EMBL:
AY358578,
AB028600,
BC072403,
AF142675,
BC062983,
AK022566,
AK023506,
AJ005382,
BC007317,
CH471195
Ensembl:
ENSG00000027847
KO:
hsa:11285
|
| Nucleutide sequences |
EMBL-CDS:
AAH07317.1,
AAH62983.1,
BAA83414.1,
AAQ88941.1,
CAB56424.1,
AAH72403.1,
BAG51201.1,
EAW84965.1,
AAF22225.1,
BAG51093.1
Gene_ORFName:
UNQ748/PRO1478
Ensembl_TRS:
ENST00000029410
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000029410
RefSeq:
NP_009186.1,
XP_016864488.1,
XP_006714879.1
|
| Others |
UniRef100:
UniRef100_Q9UBV7,
UniRef100_A0A2R9CS16
UniRef90:
UniRef90_Q9UBV7
UniRef50:
UniRef50_Q9UBV7
UniGene:
Hs.455109
CCDS:
CCDS4429.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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