Gene
b3galt6
- ID
- ZDB-GENE-101104-13
- Name
- UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
- Symbol
- b3galt6 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable galactosylxylosylprotein 3-beta-galactosyltransferase activity. Predicted to be involved in glycosaminoglycan biosynthetic process and protein O-linked glycosylation. Predicted to act upstream of or within protein glycosylation. Predicted to be located in Golgi apparatus and membrane. Predicted to be active in Golgi membrane. Used to study Ehlers-Danlos syndrome. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome spondylodysplastic type 2 and spondyloepimetaphyseal dysplasia with joint laxity type 1. Orthologous to human B3GALT6 (beta-1,3-galactosyltransferase 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Delbaere et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 8 figures from Delbaere et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Ehlers-Danlos syndrome spondylodysplastic type 2 | Alliance | Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 615349 |
| spondyloepimetaphyseal dysplasia with joint laxity type 1 | Alliance | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 271640 |
| Al-Gazali syndrome | 609465 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Ehlers-Danlos syndrome | b3galt6cmg22/cmg22 | standard conditions | Delbaere et al., 2020 |
| Ehlers-Danlos syndrome | b3galt6cmg20/cmg20 | standard conditions | Delbaere et al., 2020 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR002659 | Glycosyl transferase, family 31 |
Domain Details Per Protein
| Protein | Length | Glycosyl transferase, family 31 |
|---|---|---|
|
UniProtKB:Q256Z7
|
335 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
b3galt6-201
(1)
|
Ensembl | 1,060 nt | ||
| mRNA |
b3galt6-202
(1)
|
Ensembl | 3,894 nt |
Interactions and Pathways
No data available
Plasmids
No data available