CSGALNACT1 Chromosome 8
Chondroitin sulfate N-acetylgalactosaminyltransferase 1
Upload your DNA to see your personal genotypes for variants in CSGALNACT1.
What This Gene Does
This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Beta 4-glycosyltransferases
Locus Type
gene with protein product
Location
8p21.3
Ensembl
ENSG00000147408
Associated Conditions (5)
Inborn genetic diseases
Skeletal dysplasia
mild
with joint laxity and advanced bone age
CSGALNACT1-related disorder
Key Variants
RS143971943
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144295336
Conflicting classifications of pathogenicity
Skeletal dysplasia, mild, with joint laxity and advanced bone age
Health Risk
RS146273214
Conflicting classifications of pathogenicity
Health Risk
RS36026721
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS746391651
Conflicting classifications of pathogenicity
Skeletal dysplasia, mild, with joint laxity and advanced bone age
Health Risk
RS201151136
Likely pathogenic
Skeletal dysplasia, mild, with joint laxity and advanced bone age
Health Risk
RS2054868908
Likely pathogenic
Skeletal dysplasia, mild, with joint laxity and advanced bone age
Health Risk
RS2538803620
Likely pathogenic
Skeletal dysplasia, mild, with joint laxity and advanced bone age
Health Risk
RS1034099077
Pathogenic
Skeletal dysplasia, mild, with joint laxity and advanced bone age
Health Risk
RS1244948993
Pathogenic
Health Risk
RS1356871588
Pathogenic
Health Risk
RS2077140472
Pathogenic
Skeletal dysplasia, mild, with joint laxity and advanced bone age
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143971943 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144295336 | Health Risk | Conflicting classifications of pathogenicity | Skeletal dysplasia, mild, with joint laxity and advanced bone age |
| RS146273214 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS36026721 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS746391651 | Health Risk | Conflicting classifications of pathogenicity | Skeletal dysplasia, mild, with joint laxity and advanced bone age |
| RS201151136 | Health Risk | Likely pathogenic | Skeletal dysplasia, mild, with joint laxity and advanced bone age |
| RS2054868908 | Health Risk | Likely pathogenic | Skeletal dysplasia, mild, with joint laxity and advanced bone age |
| RS2538803620 | Health Risk | Likely pathogenic | Skeletal dysplasia, mild, with joint laxity and advanced bone age |
| RS1034099077 | Health Risk | Pathogenic | Skeletal dysplasia, mild, with joint laxity and advanced bone age |
| RS1244948993 | Health Risk | Pathogenic | — |
| RS1356871588 | Health Risk | Pathogenic | — |
| RS2077140472 | Health Risk | Pathogenic | Skeletal dysplasia, mild, with joint laxity and advanced bone age |
| RS2153997235 | Health Risk | Pathogenic | — |
| RS2538832890 | Health Risk | Pathogenic | — |
| RS746934517 | Health Risk | Pathogenic | — |
| RS750290204 | Health Risk | Pathogenic | — |