CHSY1 Chromosome 15
Chondroitin sulfate synthase 1
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What This Gene Does
This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
"Beta 4-glycosyltransferases|Beta 3-glycosyltransferases"
Locus Type
gene with protein product
Location
15q26.3
Ensembl
ENSG00000131873
Associated Conditions (2)
Temtamy preaxial brachydactyly syndrome
Inborn genetic diseases
Key Variants
RS146047900
Conflicting classifications of pathogenicity
Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
Health Risk
RS146586939
Conflicting classifications of pathogenicity
Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
Health Risk
RS373485537
Conflicting classifications of pathogenicity
Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
Health Risk
RS75034086
Conflicting classifications of pathogenicity
Temtamy preaxial brachydactyly syndrome, Inborn genetic diseases, Temtamy preaxial brachydactyly syndrome
Health Risk
RS751409111
Conflicting classifications of pathogenicity
Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
Health Risk
RS764100516
Conflicting classifications of pathogenicity
Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
Health Risk
RS1555492492
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1567106459
Pathogenic
Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
Health Risk
RS1567112402
Pathogenic
Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
Health Risk
RS1596459125
Pathogenic
Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
Health Risk
RS2039109846
Pathogenic
Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
Health Risk
RS387906984
Pathogenic
Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146047900 | Health Risk | Conflicting classifications of pathogenicity | Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome |
| RS146586939 | Health Risk | Conflicting classifications of pathogenicity | Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome |
| RS373485537 | Health Risk | Conflicting classifications of pathogenicity | Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome |
| RS75034086 | Health Risk | Conflicting classifications of pathogenicity | Temtamy preaxial brachydactyly syndrome, Inborn genetic diseases, Temtamy preaxial brachydactyly syndrome |
| RS751409111 | Health Risk | Conflicting classifications of pathogenicity | Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome |
| RS764100516 | Health Risk | Conflicting classifications of pathogenicity | Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome |
| RS1555492492 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1567106459 | Health Risk | Pathogenic | Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome |
| RS1567112402 | Health Risk | Pathogenic | Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome |
| RS1596459125 | Health Risk | Pathogenic | Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome |
| RS2039109846 | Health Risk | Pathogenic | Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome |
| RS387906984 | Health Risk | Pathogenic | Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome |
| RS387906985 | Health Risk | Pathogenic | Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome |