SLC35D1 Chromosome 1
Solute carrier family 35 member D1
Upload your DNA to see your personal genotypes for variants in SLC35D1.
What This Gene Does
Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Solute carrier family 35
Locus Type
gene with protein product
Location
1p31.3
Ensembl
ENSG00000116704
Associated Conditions (4)
Connective tissue disorder
Schneckenbecken dysplasia
Inborn genetic diseases
SLC35D1-related disorder
Key Variants
RS1314283727
Conflicting classifications of pathogenicity
Connective tissue disorder, Schneckenbecken dysplasia, Connective tissue disorder
Health Risk
RS143218310
Conflicting classifications of pathogenicity
Schneckenbecken dysplasia, Connective tissue disorder, Inborn genetic diseases
Health Risk
RS1558168052
Conflicting classifications of pathogenicity
Health Risk
RS199561187
Conflicting classifications of pathogenicity
Schneckenbecken dysplasia, Inborn genetic diseases, Schneckenbecken dysplasia
Health Risk
RS374766656
Conflicting classifications of pathogenicity
Schneckenbecken dysplasia, Schneckenbecken dysplasia
Health Risk
RS745564692
Conflicting classifications of pathogenicity
Schneckenbecken dysplasia, Schneckenbecken dysplasia
Health Risk
RS1171884826
Likely pathogenic
SLC35D1-related disorder, SLC35D1-related disorder
Health Risk
RS137853111
Likely pathogenic
Schneckenbecken dysplasia, Schneckenbecken dysplasia
Health Risk
RS747883333
Likely pathogenic
Schneckenbecken dysplasia, Schneckenbecken dysplasia
Health Risk
RS766692914
Likely pathogenic
Schneckenbecken dysplasia, Schneckenbecken dysplasia
Health Risk
RS925450718
Likely pathogenic
Schneckenbecken dysplasia, Schneckenbecken dysplasia
Health Risk
RS1570643880
Pathogenic
Schneckenbecken dysplasia, Schneckenbecken dysplasia
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1314283727 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Schneckenbecken dysplasia, Connective tissue disorder |
| RS143218310 | Health Risk | Conflicting classifications of pathogenicity | Schneckenbecken dysplasia, Connective tissue disorder, Inborn genetic diseases |
| RS1558168052 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199561187 | Health Risk | Conflicting classifications of pathogenicity | Schneckenbecken dysplasia, Inborn genetic diseases, Schneckenbecken dysplasia |
| RS374766656 | Health Risk | Conflicting classifications of pathogenicity | Schneckenbecken dysplasia, Schneckenbecken dysplasia |
| RS745564692 | Health Risk | Conflicting classifications of pathogenicity | Schneckenbecken dysplasia, Schneckenbecken dysplasia |
| RS1171884826 | Health Risk | Likely pathogenic | SLC35D1-related disorder, SLC35D1-related disorder |
| RS137853111 | Health Risk | Likely pathogenic | Schneckenbecken dysplasia, Schneckenbecken dysplasia |
| RS747883333 | Health Risk | Likely pathogenic | Schneckenbecken dysplasia, Schneckenbecken dysplasia |
| RS766692914 | Health Risk | Likely pathogenic | Schneckenbecken dysplasia, Schneckenbecken dysplasia |
| RS925450718 | Health Risk | Likely pathogenic | Schneckenbecken dysplasia, Schneckenbecken dysplasia |
| RS1570643880 | Health Risk | Pathogenic | Schneckenbecken dysplasia, Schneckenbecken dysplasia |
| RS2524821657 | Health Risk | Pathogenic | Schneckenbecken dysplasia, Schneckenbecken dysplasia |
| RS2524822421 | Health Risk | Pathogenic | Schneckenbecken dysplasia, Schneckenbecken dysplasia |
| RS267607062 | Health Risk | Pathogenic | Schneckenbecken dysplasia, Schneckenbecken dysplasia |
| RS267607063 | Health Risk | Pathogenic | Schneckenbecken dysplasia, Schneckenbecken dysplasia |
| RS369408014 | Health Risk | Pathogenic | Schneckenbecken dysplasia, Schneckenbecken dysplasia |