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 |
|---|---|---|---|
| RS1298467427 | Health Risk | Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS1490242400 | Health Risk | Likely pathogenic | — |
| RS1553775177 | Health Risk | Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS1560017341 | Health Risk | Likely pathogenic | — |
| RS1712611940 | Health Risk | Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS1714299831 | Health Risk | Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS2108175642 | Health Risk | Likely pathogenic | — |
| RS2108183177 | Health Risk | Likely pathogenic | — |
| RS2473240506 | Health Risk | Likely pathogenic | SI-related disorder, SI-related disorder |
| RS2473244149 | Health Risk | Likely pathogenic | — |
| RS2473281900 | Health Risk | Likely pathogenic | — |
| RS2473282291 | Health Risk | Likely pathogenic | SI-related disorder, SI-related disorder |
| RS2473296292 | Health Risk | Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS2473317311 | Health Risk | Likely pathogenic | SI-related disorder, SI-related disorder |
| RS2473347693 | Health Risk | Likely pathogenic | — |
| RS375113759 | Health Risk | Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS376816463 | Health Risk | Likely pathogenic | — |
| RS749013790 | Health Risk | Likely pathogenic | — |
| RS754961413 | Health Risk | Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS756860453 | Health Risk | Likely pathogenic | — |
| RS757893762 | Health Risk | Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS767159890 | Health Risk | Likely pathogenic | — |
| RS772671498 | Health Risk | Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS774109373 | Health Risk | Likely pathogenic | — |
| RS774405472 | Health Risk | Likely pathogenic | SI-related disorder, SI-related disorder |
| RS775933206 | Health Risk | Likely pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS776450537 | Health Risk | Likely pathogenic | — |
| RS780003350 | Health Risk | Likely pathogenic | — |
| RS1000661675 | Health Risk | Pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS1164456060 | Health Risk | Pathogenic | — |
| RS1190732170 | Health Risk | Pathogenic | — |
| RS121912612 | Health Risk | Pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS121912613 | Health Risk | Pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS121912614 | Health Risk | Pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS1231349140 | Health Risk | Pathogenic | — |
| RS1301054864 | Health Risk | Pathogenic | — |
| RS1435641758 | Health Risk | Pathogenic | SI-related disorder, SI-related disorder |
| RS1461489544 | Health Risk | Pathogenic | — |
| RS1714177959 | Health Risk | Pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS1714943416 | Health Risk | Pathogenic | — |
| RS1717481370 | Health Risk | Pathogenic | — |
| RS1717730695 | Health Risk | Pathogenic | — |
| RS1718019180 | Health Risk | Pathogenic | — |
| RS2108127087 | Health Risk | Pathogenic | — |
| RS2108205808 | Health Risk | Pathogenic | — |
| RS2108217077 | Health Risk | Pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS2108219188 | Health Risk | Pathogenic | Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS2108222774 | Health Risk | Pathogenic | — |
| RS2473218529 | Health Risk | Pathogenic | — |
| RS2473275307 | Health Risk | Pathogenic | — |