B4GALNT1 Chromosome 12
Beta-1,4-N-acetyl-galactosaminyltransferase 1
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What This Gene Does
GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
Gene Info
Gene Group
Beta 4-glycosyltransferases
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000135454
Associated Conditions (5)
Spastic paraplegia
Hereditary spastic paraplegia 26
B4GALNT1-related disorder
Inborn genetic diseases
Spastic paraparesis
Key Variants
RS113207856
Conflicting classifications of pathogenicity
Health Risk
RS1471760048
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 26, Spastic paraplegia
Health Risk
RS149670131
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 26, Spastic paraplegia
Health Risk
RS151077423
Conflicting classifications of pathogenicity
Health Risk
RS370107238
Conflicting classifications of pathogenicity
Spastic paraplegia, B4GALNT1-related disorder, Spastic paraplegia
Health Risk
RS751593187
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS759353736
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 26, Inborn genetic diseases
Health Risk
RS2140249957
Likely pathogenic
Health Risk
RS2540658045
Likely pathogenic
Spastic paraplegia, Spastic paraplegia
Health Risk
RS2540661679
Likely pathogenic
Health Risk
RS2540668999
Likely pathogenic
Hereditary spastic paraplegia 26, Hereditary spastic paraplegia 26
Health Risk
RS371013292
Likely pathogenic
Spastic paraplegia, Spastic paraplegia
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113207856 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1471760048 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia 26, Spastic paraplegia |
| RS149670131 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia 26, Spastic paraplegia |
| RS151077423 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370107238 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, B4GALNT1-related disorder, Spastic paraplegia |
| RS751593187 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS759353736 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia 26, Inborn genetic diseases |
| RS2140249957 | Health Risk | Likely pathogenic | — |
| RS2540658045 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2540661679 | Health Risk | Likely pathogenic | — |
| RS2540668999 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 26, Hereditary spastic paraplegia 26 |
| RS371013292 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS563575730 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 26, Hereditary spastic paraplegia 26 |
| RS774736480 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS775080333 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1269140893 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1296877590 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1340636078 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1361370524 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1410753769 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1423595663 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS144887664 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2540640409 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2540658466 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2540667597 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2540668608 | Health Risk | Pathogenic | Hereditary spastic paraplegia 26, Hereditary spastic paraplegia 26 |
| RS398122382 | Health Risk | Pathogenic | Hereditary spastic paraplegia 26, Spastic paraplegia, Hereditary spastic paraplegia 26 |
| RS745744124 | Health Risk | Pathogenic | Hereditary spastic paraplegia 26, Inborn genetic diseases, Spastic paraplegia |
| RS759528128 | Health Risk | Pathogenic | Hereditary spastic paraplegia 26, Hereditary spastic paraplegia 26 |
| RS766591558 | Health Risk | Pathogenic | Hereditary spastic paraplegia 26, Hereditary spastic paraplegia 26 |
| RS879255241 | Health Risk | Pathogenic | Hereditary spastic paraplegia 26, Hereditary spastic paraplegia 26 |
| RS1555186937 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1884842111 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 26, Spastic paraparesis, Hereditary spastic paraplegia 26 |
| RS1885117995 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 26, Spastic paraplegia |
| RS377445018 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS879255242 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 26, Hereditary spastic paraplegia 26 |