EXTL3 Chromosome 8
Exostosin like glycosyltransferase 3
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What This Gene Does
This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]
Gene Info
Gene Group
Exostosin glycosyltransferase family
Locus Type
gene with protein product
Location
8p21.1
Ensembl
ENSG00000012232
Associated Conditions (2)
Inborn genetic diseases
Immunoskeletal dysplasia with neurodevelopmental abnormalities
Key Variants
RS138851422
Conflicting classifications of pathogenicity
Health Risk
RS199831414
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS746203687
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1369665958
Likely pathogenic
Immunoskeletal dysplasia with neurodevelopmental abnormalities, Immunoskeletal dysplasia with neurodevelopmental abnormalities
Health Risk
RS749621890
Pathogenic/Likely pathogenic
Immunoskeletal dysplasia with neurodevelopmental abnormalities, Immunoskeletal dysplasia with neurodevelopmental abnormalities
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138851422 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199831414 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS746203687 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1369665958 | Health Risk | Likely pathogenic | Immunoskeletal dysplasia with neurodevelopmental abnormalities, Immunoskeletal dysplasia with neurodevelopmental abnormalities |
| RS749621890 | Health Risk | Pathogenic/Likely pathogenic | Immunoskeletal dysplasia with neurodevelopmental abnormalities, Immunoskeletal dysplasia with neurodevelopmental abnormalities |