B4GALT7 Chromosome 5
Beta-1,4-galactosyltransferase 7
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What This Gene Does
This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Beta 4-glycosyltransferases
Locus Type
gene with protein product
Location
5q35.3
Ensembl
ENSG00000027847
Associated Conditions (10)
Lethal skeletal dysplasia
Ehlers-Danlos syndrome progeroid type
Ehlers-Danlos syndrome
spondylodysplastic type
1
B4GALT7-related disorder
Inborn genetic diseases
Spondylodysplastic Ehlers-Danlos syndrome
Larsen-like syndrome
B3GAT3 type
Key Variants
RS1370937766
Conflicting classifications of pathogenicity
Lethal skeletal dysplasia, Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome
Health Risk
RS1383726308
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
Health Risk
RS142476892
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome, B4GALT7-related disorder
Health Risk
RS146632722
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome progeroid type, Inborn genetic diseases, Ehlers-Danlos syndrome progeroid type
Health Risk
RS147617631
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
Health Risk
RS1481659687
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
Health Risk
RS150487733
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome
Health Risk
RS200503833
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome, spondylodysplastic type
Health Risk
RS201489289
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
Health Risk
RS370483831
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome progeroid type, Inborn genetic diseases, Ehlers-Danlos syndrome progeroid type
Health Risk
RS372857848
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
Health Risk
RS373068387
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome
Health Risk
All Variants (29)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1370937766 | Health Risk | Conflicting classifications of pathogenicity | Lethal skeletal dysplasia, Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome |
| RS1383726308 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type |
| RS142476892 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome, B4GALT7-related disorder |
| RS146632722 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome progeroid type, Inborn genetic diseases, Ehlers-Danlos syndrome progeroid type |
| RS147617631 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type |
| RS1481659687 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type |
| RS150487733 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome |
| RS200503833 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome, spondylodysplastic type |
| RS201489289 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type |
| RS370483831 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome progeroid type, Inborn genetic diseases, Ehlers-Danlos syndrome progeroid type |
| RS372857848 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type |
| RS373068387 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome |
| RS570926723 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, B4GALT7-related disorder, Ehlers-Danlos syndrome progeroid type |
| RS753594601 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome, spondylodysplastic type |
| RS756942664 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome, spondylodysplastic type |
| RS764639019 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome progeroid type, Inborn genetic diseases, Ehlers-Danlos syndrome progeroid type |
| RS121917817 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome progeroid type, Spondylodysplastic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome progeroid type |
| RS2532517390 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type |
| RS2532526425 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type |
| RS2532534868 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type |
| RS121917818 | Health Risk | Pathogenic | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type |
| RS2127511689 | Health Risk | Pathogenic | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type |
| RS28937869 | Health Risk | Pathogenic | Ehlers-Danlos syndrome progeroid type, Larsen-like syndrome, B3GAT3 type |
| RS375845310 | Health Risk | Pathogenic | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type |
| RS761789460 | Health Risk | Pathogenic | Spondylodysplastic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome progeroid type, Spondylodysplastic Ehlers-Danlos syndrome |
| RS780427259 | Health Risk | Pathogenic | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type |
| RS1064796683 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type |
| RS187063864 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome, spondylodysplastic type |
| RS879255634 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome progeroid type, Inborn genetic diseases, Ehlers-Danlos syndrome |