SI Chromosome 3
Sucrase-isomaltase
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What This Gene Does
This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.[provided by RefSeq, Apr 2010]
Gene Info
Gene Group
Glycoside hydrolase family 31
Locus Type
gene with protein product
Location
3q26.1
Ensembl
ENSG00000090402
Associated Conditions (5)
Inborn genetic diseases
Sucrase-isomaltase deficiency
SI-related disorder
Malignant tumor of urinary bladder
Congenital sucrose-isomaltase deficiency
Key Variants
RS111316957
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS112259253
Conflicting classifications of pathogenicity
Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
Health Risk
RS113826825
Conflicting classifications of pathogenicity
Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
Health Risk
RS115295826
Conflicting classifications of pathogenicity
Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
Health Risk
RS121912615
Conflicting classifications of pathogenicity
Sucrase-isomaltase deficiency, SI-related disorder, Sucrase-isomaltase deficiency
Health Risk
RS121912616
Conflicting classifications of pathogenicity
Sucrase-isomaltase deficiency, Inborn genetic diseases, SI-related disorder
Health Risk
RS138374817
Conflicting classifications of pathogenicity
Sucrase-isomaltase deficiency, Inborn genetic diseases, Sucrase-isomaltase deficiency
Health Risk
RS138434001
Conflicting classifications of pathogenicity
Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
Health Risk
RS138564183
Conflicting classifications of pathogenicity
Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
Health Risk
RS139504152
Conflicting classifications of pathogenicity
Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
Health Risk
RS139867598
Conflicting classifications of pathogenicity
Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
Health Risk
RS139876383
Conflicting classifications of pathogenicity
Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
Health Risk
All Variants (189)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2473288479 | Health Risk | Pathogenic | — |
| RS2473314623 | Health Risk | Pathogenic | — |
| RS2473351517 | Health Risk | Pathogenic | — |
| RS2473418793 | Health Risk | Pathogenic | — |
| RS2473421946 | Health Risk | Pathogenic | — |
| RS2473427253 | Health Risk | Pathogenic | — |
| RS2473432528 | Health Risk | Pathogenic | — |
| RS2473436419 | Health Risk | Pathogenic | — |
| RS2473438329 | Health Risk | Pathogenic | — |
| RS267599669 | Health Risk | Pathogenic | — |
| RS267607049 | Health Risk | Pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS370402596 | Health Risk | Pathogenic | — |
| RS753398539 | Health Risk | Pathogenic | — |
| RS756088593 | Health Risk | Pathogenic | — |
| RS756977393 | Health Risk | Pathogenic | — |
| RS763342449 | Health Risk | Pathogenic | — |
| RS769103567 | Health Risk | Pathogenic | — |
| RS774659446 | Health Risk | Pathogenic | — |
| RS775470535 | Health Risk | Pathogenic | — |
| RS775994398 | Health Risk | Pathogenic | — |
| RS776569472 | Health Risk | Pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS779803851 | Health Risk | Pathogenic | — |
| RS781470490 | Health Risk | Pathogenic | Sucrase-isomaltase deficiency, SI-related disorder, Sucrase-isomaltase deficiency |
| RS1038499768 | Health Risk | Pathogenic/Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS1221816681 | Health Risk | Pathogenic/Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS1713910885 | Health Risk | Pathogenic/Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS1718661487 | Health Risk | Pathogenic/Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS200328403 | Health Risk | Pathogenic/Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS200451408 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Sucrase-isomaltase deficiency, Inborn genetic diseases |
| RS200972419 | Health Risk | Pathogenic/Likely pathogenic | Sucrase-isomaltase deficiency, Congenital sucrose-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS201055347 | Health Risk | Pathogenic/Likely pathogenic | SI-related disorder, Sucrase-isomaltase deficiency, SI-related disorder |
| RS2108202378 | Health Risk | Pathogenic/Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS2473358472 | Health Risk | Pathogenic/Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS751263307 | Health Risk | Pathogenic/Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS751534972 | Health Risk | Pathogenic/Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS754468827 | Health Risk | Pathogenic/Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS758259365 | Health Risk | Pathogenic/Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS769229932 | Health Risk | Pathogenic/Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS898055093 | Health Risk | Pathogenic/Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |