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 have UDP-galactosyltransferase activity; acetylgalactosaminyltransferase activity; and acetylglucosaminyltransferase activity. Predicted to be involved in glycosaminoglycan biosynthetic process and protein O-linked glycosylation. Predicted to localize to Golgi apparatus and endoplasmic reticulum. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome. Orthologous to human B3GALT6 (beta-1,3-galactosyltransferase 6).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Delbaere et al., 2020

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 8 figures from Delbaere et al., 2020
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With b3galt6 Human Ortholog

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

Associated With b3galt6 Via Experimental Models

Human Disease	Fish	Conditions	Citations
Ehlers-Danlos syndrome	b3galt6^cmg22/cmg22	standard conditions	Delbaere et al., 2020
Ehlers-Danlos syndrome	b3galt6^cmg20/cmg20	standard conditions	Delbaere et al., 2020