SI

Chr 3q26.1

sucrase-isomaltase

MANE:: ENST00000264382.8

OMIM: 609845 ↗NCBI: 6476 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SI · P14410

v62025-08-01

Predicted Aligned Error matrix for SI — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.6/ 100

Very high

1,827 residues

Confidence breakdown

Very high(≥ 90)85%
Confident(70–90)12%
Low(50–70)1%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intestinal failure or congenital diarrhoea
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

congenital sucrase-isomaltase deficiency
0.81
type 2 diabetes mellitus
0.57
intestinal disaccharidase deficiency
0.53
hereditary disease
0.47
diabetes mellitus
0.38
abnormal chest sounds
0.29
alcohol drinking
0.27
urolithiasis
0.27
cardiovascular disorder
0.26
drug allergy
0.26

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sucrase-isomaltase, intestinal

Bifunctional enzyme with both sucrase and isomaltase activities involved in breakdown of dietary starch oligosaccharides in small intestine. The isomaltase domain hydrolazes alpha-1,6-glycosidic linkages in isomaltose. The sucrase domain cleaves the alpha-1,2-glycosidic linkages in sucrose to form glucose and fructose, and contributes to the cleavage of the alpha-1,4-glycosidic linkage in maltose to form two glucose monosaccharides