ST3GAL3 Chromosome 1
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
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What This Gene Does
The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"Sialyltransferases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1p34.1
Ensembl
ENSG00000126091
Associated Conditions (15)
Early-infantile DEE
Inborn genetic diseases
Nonpapillary renal cell carcinoma
ST3GAL3-related disorder
Intellectual disability
autosomal recessive 12
Developmental and epileptic encephalopathy
15
Epilepsy due to perinatal stroke
Sarcoma
Prolonged neonatal jaundice
Severe intellectual disability
Difficulty walking
Frequent falls
Aggressive behavior
Key Variants
RS1015506821
Conflicting classifications of pathogenicity
Early-infantile DEE, Inborn genetic diseases, Early-infantile DEE
Health Risk
RS113954699
Conflicting classifications of pathogenicity
Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
Health Risk
RS115003742
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS147330005
Conflicting classifications of pathogenicity
ST3GAL3-related disorder, Early-infantile DEE, ST3GAL3-related disorder
Health Risk
RS192651565
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS545265264
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS553120567
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 12, Developmental and epileptic encephalopathy
Health Risk
RS563317319
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS745451424
Conflicting classifications of pathogenicity
Epilepsy due to perinatal stroke, Developmental and epileptic encephalopathy, 15
Health Risk
RS748922857
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS752116461
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS753703868
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1015506821 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Inborn genetic diseases, Early-infantile DEE |
| RS113954699 | Health Risk | Conflicting classifications of pathogenicity | Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma |
| RS115003742 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS147330005 | Health Risk | Conflicting classifications of pathogenicity | ST3GAL3-related disorder, Early-infantile DEE, ST3GAL3-related disorder |
| RS192651565 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS545265264 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS553120567 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 12, Developmental and epileptic encephalopathy |
| RS563317319 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS745451424 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy due to perinatal stroke, Developmental and epileptic encephalopathy, 15 |
| RS748922857 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS752116461 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS753703868 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS754735171 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS762536905 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 15, Early-infantile DEE |
| RS773310944 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS773763812 | Health Risk | Conflicting classifications of pathogenicity | ST3GAL3-related disorder, Early-infantile DEE, ST3GAL3-related disorder |
| RS780826701 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, Intellectual disability, autosomal recessive 12 |
| RS797046013 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS886042469 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS1201878175 | Health Risk | Likely pathogenic | Prolonged neonatal jaundice, Severe intellectual disability, Difficulty walking |
| RS1571524490 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS200255759 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 15, Developmental and epileptic encephalopathy |
| RS2082857900 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2154091891 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2522893135 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2527100064 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2549629250 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, Early-infantile DEE, Developmental and epileptic encephalopathy |
| RS1387140766 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 12, Developmental and epileptic encephalopathy |
| RS1461640035 | Health Risk | Pathogenic | — |
| RS1557563410 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 15, Developmental and epileptic encephalopathy |
| RS1557612719 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 12, Intellectual disability |
| RS201204481 | Health Risk | Pathogenic | Inborn genetic diseases, ST3GAL3-related disorder, Early-infantile DEE |
| RS2077858180 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2154197473 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2154270971 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS387906943 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 12, Intellectual disability |
| RS1195818093 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 15, Intellectual disability |
| RS148531289 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 15, Early-infantile DEE |