XYLT1 Chromosome 16
Xylosyltransferase 1
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What This Gene Does
This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]
Gene Info
Gene Group
Glucosaminyl (N-acetyl) transferases/xylosyltransferases
Locus Type
gene with protein product
Location
16p12.3
Ensembl
ENSG00000103489
Associated Conditions (4)
Desbuquois dysplasia 1
Desbuquois dysplasia 2
Inborn genetic diseases
XYLT1-related disorder
Key Variants
RS137935194
Conflicting classifications of pathogenicity
Desbuquois dysplasia 1, Desbuquois dysplasia 2, Inborn genetic diseases
Health Risk
RS140976278
Conflicting classifications of pathogenicity
Desbuquois dysplasia 1, Inborn genetic diseases, Desbuquois dysplasia 1
Health Risk
RS143159780
Conflicting classifications of pathogenicity
Desbuquois dysplasia 1, Inborn genetic diseases, Desbuquois dysplasia 1
Health Risk
RS192023037
Conflicting classifications of pathogenicity
Desbuquois dysplasia 1, Desbuquois dysplasia 1
Health Risk
RS199588257
Conflicting classifications of pathogenicity
Desbuquois dysplasia 1, Desbuquois dysplasia 1
Health Risk
RS568899945
Conflicting classifications of pathogenicity
Desbuquois dysplasia 1, XYLT1-related disorder, Inborn genetic diseases
Health Risk
RS74993523
Conflicting classifications of pathogenicity
Desbuquois dysplasia 1, Inborn genetic diseases, XYLT1-related disorder
Health Risk
RS766521030
Conflicting classifications of pathogenicity
Desbuquois dysplasia 1, XYLT1-related disorder, Desbuquois dysplasia 1
Health Risk
RS2033685902
Likely pathogenic
Desbuquois dysplasia 2, Desbuquois dysplasia 2
Health Risk
RS769391314
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1085307563
Pathogenic
Desbuquois dysplasia 2, Desbuquois dysplasia 2
Health Risk
RS1164720535
Pathogenic
Desbuquois dysplasia 1, Desbuquois dysplasia 1
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137935194 | Health Risk | Conflicting classifications of pathogenicity | Desbuquois dysplasia 1, Desbuquois dysplasia 2, Inborn genetic diseases |
| RS140976278 | Health Risk | Conflicting classifications of pathogenicity | Desbuquois dysplasia 1, Inborn genetic diseases, Desbuquois dysplasia 1 |
| RS143159780 | Health Risk | Conflicting classifications of pathogenicity | Desbuquois dysplasia 1, Inborn genetic diseases, Desbuquois dysplasia 1 |
| RS192023037 | Health Risk | Conflicting classifications of pathogenicity | Desbuquois dysplasia 1, Desbuquois dysplasia 1 |
| RS199588257 | Health Risk | Conflicting classifications of pathogenicity | Desbuquois dysplasia 1, Desbuquois dysplasia 1 |
| RS568899945 | Health Risk | Conflicting classifications of pathogenicity | Desbuquois dysplasia 1, XYLT1-related disorder, Inborn genetic diseases |
| RS74993523 | Health Risk | Conflicting classifications of pathogenicity | Desbuquois dysplasia 1, Inborn genetic diseases, XYLT1-related disorder |
| RS766521030 | Health Risk | Conflicting classifications of pathogenicity | Desbuquois dysplasia 1, XYLT1-related disorder, Desbuquois dysplasia 1 |
| RS2033685902 | Health Risk | Likely pathogenic | Desbuquois dysplasia 2, Desbuquois dysplasia 2 |
| RS769391314 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1085307563 | Health Risk | Pathogenic | Desbuquois dysplasia 2, Desbuquois dysplasia 2 |
| RS1164720535 | Health Risk | Pathogenic | Desbuquois dysplasia 1, Desbuquois dysplasia 1 |
| RS1320125389 | Health Risk | Pathogenic | Desbuquois dysplasia 1, Desbuquois dysplasia 1 |
| RS1567215600 | Health Risk | Pathogenic | Desbuquois dysplasia 2, Desbuquois dysplasia 2 |
| RS1567215615 | Health Risk | Pathogenic | Desbuquois dysplasia 2, Desbuquois dysplasia 2 |
| RS1567300982 | Health Risk | Pathogenic | Desbuquois dysplasia 2, Desbuquois dysplasia 2 |
| RS2506152416 | Health Risk | Pathogenic | Desbuquois dysplasia 1, Desbuquois dysplasia 1 |
| RS2506186149 | Health Risk | Pathogenic | Desbuquois dysplasia 1, Desbuquois dysplasia 1 |
| RS2507321527 | Health Risk | Pathogenic | Desbuquois dysplasia 1, Desbuquois dysplasia 1 |
| RS587777366 | Health Risk | Pathogenic | Desbuquois dysplasia 2, Desbuquois dysplasia 2 |
| RS587777368 | Health Risk | Pathogenic | Desbuquois dysplasia 2, Desbuquois dysplasia 1, Desbuquois dysplasia 2 |
| RS587777369 | Health Risk | Pathogenic | Desbuquois dysplasia 2, Desbuquois dysplasia 2 |
| RS587777370 | Health Risk | Pathogenic | Desbuquois dysplasia 2, Desbuquois dysplasia 2 |
| RS776422861 | Health Risk | Pathogenic | Desbuquois dysplasia 2, Desbuquois dysplasia 2 |
| RS886041616 | Health Risk | Pathogenic | — |
| RS1323802111 | Health Risk | Pathogenic/Likely pathogenic | Desbuquois dysplasia 1, Desbuquois dysplasia 1 |