SI Chromosome 3

Sucrase-isomaltase
189 variants 189 Health Risk

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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
RS111316957 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS112259253 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS113826825 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS115295826 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS121912615 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder, Sucrase-isomaltase deficiency
RS121912616 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Inborn genetic diseases, SI-related disorder
RS138374817 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Inborn genetic diseases, Sucrase-isomaltase deficiency
RS138434001 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS138564183 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS139504152 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS139867598 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS139876383 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS139908762 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SI-related disorder, Inborn genetic diseases
RS140287192 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS142090504 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS142205728 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142447888 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS142838612 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS142838806 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder, Sucrase-isomaltase deficiency
RS143388292 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS144206255 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder, Sucrase-isomaltase deficiency
RS1444268809 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS144579834 Health Risk Conflicting classifications of pathogenicity SI-related disorder, Inborn genetic diseases, SI-related disorder
RS144972103 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1453717899 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS145486890 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS145556619 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS145891116 Health Risk Conflicting classifications of pathogenicity SI-related disorder, Inborn genetic diseases, SI-related disorder
RS145893756 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder, Sucrase-isomaltase deficiency
RS146222650 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS146501096 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146539849 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS146785675 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder, Sucrase-isomaltase deficiency
RS146830505 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Inborn genetic diseases, Sucrase-isomaltase deficiency
RS146899814 Health Risk Conflicting classifications of pathogenicity SI-related disorder, Inborn genetic diseases, SI-related disorder
RS147207752 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS147226975 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1487909793 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS148831941 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS149783130 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS150131334 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS150246328 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder, Sucrase-isomaltase deficiency
RS150428844 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150702232 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS150927256 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1718540793 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1718837805 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS185479515 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199581970 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS200646132 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
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