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
RS201654919 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS202077921 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS2473296314 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS367956129 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS368517998 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS370336977 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS370540330 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS373374968 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS373673328 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS374104171 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder, Sucrase-isomaltase deficiency
RS376062850 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS376103595 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS535082142 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS535971512 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Inborn genetic diseases, Sucrase-isomaltase deficiency
RS559599846 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS56082035 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS562469691 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS562705407 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS746151218 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sucrase-isomaltase deficiency, Inborn genetic diseases
RS746808951 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS747570138 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS747768310 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS749139836 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752564085 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS756042084 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS759754319 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder, Sucrase-isomaltase deficiency
RS762854920 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS765589827 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS767898820 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS770551110 Health Risk Conflicting classifications of pathogenicity SI-related disorder, SI-related disorder
RS770815174 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS772347173 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS774545616 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS77546399 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder, Sucrase-isomaltase deficiency
RS777219527 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Inborn genetic diseases, Sucrase-isomaltase deficiency
RS77749967 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS777987599 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779155501 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS780497188 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS780535026 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS79717168 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder, Malignant tumor of urinary bladder
RS886058141 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS886058149 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS938714371 Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1181419614 Health Risk Likely pathogenic —
RS1185991890 Health Risk Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1240035419 Health Risk Likely pathogenic —
RS1241484464 Health Risk Likely pathogenic —
RS1255541938 Health Risk Likely pathogenic —
RS1294620045 Health Risk Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
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