| Type | Description |
|---|---|
| Definition | beta 3-glucosyltransferase |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:53:00 | Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report. | 32204707 |
| 2018-02-03 11:17:00 | Studies indicate that Peters Plus syndrome is caused by mutations in beta 3-glucosyltransferase (B3GALTL). | 27049305 |
| 2015-09-26 17:10:00 | POFUT2 and B3GLCT mediate a noncanonical endoplasmic reticulum quality-control mechanism that recognizes folded thrombospondin type 1 repeats and stabilizes them by glycosylation. | 25544610 |
| 2015-03-21 13:04:00 | Mutations in the coding region of B3GALTL were identified in nine patients; six had a documented phenotype of classic Peters plus syndrome (PPS) and the remaining three had a clinical diagnosis of PPS with incomplete clinical documentation. | 23889335 |
| 2013-12-28 10:44:00 | a novel c.597-2 A>G splicing mutation within the B3GALTL gene in typical Peters-plus syndrome | 23954224 |
| Type | IDs |
|---|---|
| Synonymous | B3GALTL, B3GTL, B3Glc-T, Gal-T, beta3Glc-T |
| Gene |
UniProtKB-ID:
B3GLT_HUMAN
UniprotKB:
Q6Y288
UniParc:
UPI000036695C
EMBL:
AK291273,
AB101481,
BC068595,
CH471075,
AL138965,
AL137142,
AY190526
Ensembl:
ENSG00000187676
KO:
hsa:145173
|
| Nucleutide sequences |
EMBL-CDS:
BAF83962.1,
AAO37647.1,
AAH68595.1,
EAX08483.1,
BAD13528.1
Ensembl_TRS:
ENST00000343307
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000343002
RefSeq:
XP_011533240.1,
XP_016875884.1,
XP_011533238.1,
NP_919299.3,
XP_006719831.1
|
| Others |
UniRef100:
UniRef100_Q6Y288
UniRef90:
UniRef90_Q6Y288
UniRef50:
UniRef50_Q6Y288
UniGene:
Hs.13205
CCDS:
CCDS9341.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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