| Type | Description |
|---|---|
| Definition | beta-1,3-galactosyltransferase 6 |
| Date | Results | Publications |
|---|---|---|
| 2020-02-29 12:19:00 | Defineed 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 |
| 2019-12-07 10:51:00 | These findings confirm the involvement of B3GALT6 in the pathogenesis of Al-Gazali syndrome. | 29443383 |
| 2019-05-25 10:46:00 | This study redefines the phenotype associated with B3GALT6 mutations on the basis of clinical, molecular and biochemical data in 12 patients, and provides an in-depth assessment of beta3GalT6 activity and glycosaminoglycan synthesis. | 29931299 |
| 2014-01-11 11:15:00 | Genetic association between B3GALT6 and Ehlers-Danlos-syndrome-like connective tissue disorder in 3 families. | 23664118 |
| 2014-01-11 11:15:00 | B3GALT6 encoding an enzyme involved in the biosynthesis of the GAG linker region is responsible for a severe skeletal dysplasia, spondyloepimetaphyseal dysplasia with joint laxity type 1. | 23664117 |
| Type | IDs |
|---|---|
| Synonymous | EDSP2, EDSSPD2, SEMDJL1, beta3GalT6 |
| Gene |
UniProtKB-ID:
B3GT6_HUMAN
UniprotKB:
Q96L58
UniParc:
UPI0000141885
EMBL:
AY050570,
AL162741
Ensembl:
ENSG00000176022
KO:
hsa:126792
|
| Nucleutide sequences |
EMBL-CDS:
AAL11442.1
Ensembl_TRS:
ENST00000379198
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000368496
RefSeq:
NP_542172.2
|
| Others |
UniRef100:
UniRef100_Q96L58
UniRef90:
UniRef90_Q96L58
UniRef50:
UniRef50_Q96L58
UniGene:
Hs.284284
CCDS:
CCDS13.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员