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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SI
sucrase-isomaltase
Chromosome 3 · 3q26.1
NCBI Gene: 6476Ensembl: ENSG00000090402.8HGNC: HGNC:10856UniProt: P14410
49PubMed Papers
21Diseases
2Drugs
162Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingoligo-1,6-glucosidase activitysucrose alpha-glucosidase activitysucrose catabolic processcongenital sucrase-isomaltase deficiencytype 2 diabetes mellitusintestinal disaccharide deficiency and disaccharide malabsorptiongenetic disorder
✦AI Summary

The provided PubMed abstracts do not contain information about the SI (sucrase-isomaltase) gene function. All abstracts use 'SI' as an abbreviation for other terms: social isolation 123, a drug compound SI-B001 4, silicon element 5, insulin sensitivity 6, spectroscopic imaging 7, and sepsis-induced acute kidney injury 8. None of these studies investigate the sucrase-isomaltase enzyme or its role in carbohydrate digestion. Based on the provided abstracts, I cannot provide a scientifically grounded summary of SI gene function, as the necessary evidence is not available in the given literature.

Sources cited
1
Uses SI as abbreviation for social isolation, not sucrase-isomaltase
PMID: 36434053
2
Uses SI as abbreviation for social integration, not sucrase-isomaltase
PMID: 36403137
3
Uses SI as abbreviation for social isolation, not sucrase-isomaltase
PMID: 41307506
4
Uses SI-B001 as drug compound name, not sucrase-isomaltase
PMID: 32565357
5
Uses Si as chemical symbol for silicon element, not sucrase-isomaltase
PMID: 26807996
6
Uses SI as abbreviation for insulin sensitivity, not sucrase-isomaltase
PMID: 1748264
7
Uses SI as abbreviation for spectroscopic imaging, not sucrase-isomaltase
PMID: 11590648
8
Uses SI-AKI as abbreviation for sepsis-induced acute kidney injury, not sucrase-isomaltase
PMID: 40833519
Disease Associationsⓘ21
congenital sucrase-isomaltase deficiencyOpen Targets
0.81Strong
type 2 diabetes mellitusOpen Targets
0.57Moderate
intestinal disaccharide deficiency and disaccharide malabsorptionOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.47Moderate
diabetes mellitusOpen Targets
0.38Weak
abnormal chest soundsOpen Targets
0.25Weak
drug allergyOpen Targets
0.23Weak
alopecia areataOpen Targets
0.20Weak
neuropathyOpen Targets
0.20Weak
placenta praeviaOpen Targets
0.20Weak
Cerebral degenerationOpen Targets
0.19Weak
nephritisOpen Targets
0.19Weak
NephropathyOpen Targets
0.19Weak
tooth diseaseOpen Targets
0.19Weak
pituitary gland diseaseOpen Targets
0.17Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
chronic hepatitis C virus infectionOpen Targets
0.11Weak
Barrett's esophagusOpen Targets
0.09Suggestive
dengue diseaseOpen Targets
0.08Suggestive
Congenital sucrase-isomaltase deficiencyUniProt
Pathogenic Variants162
NM_001041.4(SI):c.2401G>T (p.Glu801Ter)Pathogenic
Sucrase-isomaltase deficiency|Congenital sucrose-isomaltase deficiency|not provided
★★☆☆2026→ Residue 801
NM_001041.4(SI):c.1607A>T (p.Asp536Val)Likely pathogenic
not provided
★★☆☆2026→ Residue 536
NM_001041.4(SI):c.3370C>T (p.Arg1124Ter)Pathogenic
not provided|Inborn genetic diseases|Sucrase-isomaltase deficiency
★★☆☆2026→ Residue 1124
NM_001041.4(SI):c.2654_2657del (p.Asp885fs)Pathogenic
not provided|Sucrase-isomaltase deficiency
★★☆☆2025→ Residue 885
NM_001041.4(SI):c.4208_4223del (p.Asn1403fs)Pathogenic
not provided|Sucrase-isomaltase deficiency
★★☆☆2025→ Residue 1403
NM_001041.4(SI):c.273_274del (p.Gly92fs)Pathogenic
not provided|Sucrase-isomaltase deficiency|SI-related disorder
★★☆☆2025→ Residue 92
NM_001041.4(SI):c.2737-2A>GLikely pathogenic
not provided|SI-related disorder
★★☆☆2025
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer)Pathogenic
not provided|Sucrase-isomaltase deficiency
★★☆☆2025→ Residue 1062
NM_001041.4(SI):c.4575+2T>CLikely pathogenic
not provided|Sucrase-isomaltase deficiency
★★☆☆2025
NM_001041.4(SI):c.1837G>T (p.Glu613Ter)Pathogenic
not provided|SI-related disorder|Sucrase-isomaltase deficiency
★★☆☆2025→ Residue 613
NM_001041.4(SI):c.2828G>C (p.Cys943Ser)Likely pathogenic
not provided|Sucrase-isomaltase deficiency
★★☆☆2025→ Residue 943
NM_001041.4(SI):c.4094dup (p.Phe1366fs)Pathogenic
not provided|Sucrase-isomaltase deficiency
★★☆☆2025→ Residue 1366
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter)Pathogenic
Sucrase-isomaltase deficiency|not provided
★★☆☆2025→ Residue 1609
NM_001041.4(SI):c.5110C>T (p.Arg1704Ter)Pathogenic
not provided
★★☆☆2025→ Residue 1704
NM_001041.4(SI):c.2028dup (p.Gln677fs)Pathogenic
not provided|Sucrase-isomaltase deficiency
★★☆☆2025→ Residue 677
NM_001041.4(SI):c.2737-1G>CLikely pathogenic
not provided|Sucrase-isomaltase deficiency
★★☆☆2025
NM_001041.4(SI):c.3629dup (p.His1210fs)Pathogenic
Sucrase-isomaltase deficiency|not provided
★★☆☆2025→ Residue 1210
NM_001041.4(SI):c.1910delinsGTCTTC (p.Phe637fs)Pathogenic
not provided|Sucrase-isomaltase deficiency
★★☆☆2025→ Residue 637
NM_001041.4(SI):c.4927-1G>ALikely pathogenic
Sucrase-isomaltase deficiency|not provided
★★☆☆2025
NM_001041.4(SI):c.834_837del (p.Gln278fs)Pathogenic
not provided|Sucrase-isomaltase deficiency
★★☆☆2025→ Residue 278
View on ClinVar ↗
Drug Targets2
CELGOSIVIRPhase II
Alpha glucosidase inhibitor
chronic hepatitis C virus infection
VOGLIBOSEApproved
Alpha glucosidase inhibitor
type 2 diabetes mellitus
Related Genes
IDNKShared pathway100%GLT6D1Shared pathway100%LANCL3Shared pathway100%HEXDShared pathway100%KLBShared pathway100%YDJCShared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
50%
Ovary
50%
Liver
50%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
SIIDNKGLT6D1LANCL3HEXDKLBYDJC
PROTEIN STRUCTURE
Preparing viewer…
PDB3LPP · 2.15 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.74–1.01]
RankingsWhere SI stands among ~20K protein-coding genes
  • #9,016of 20,598
    Most Researched49
  • #1,001of 1,025
    FDA-Approved Drug Targets1
  • #463of 5,498
    Most Pathogenic Variants162 · top 10%
  • #9,810of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedSI
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Social isolation and the brain: effects and mechanisms.
PMID: 36434053
Mol Psychiatry · 2023
1.00
2
Social integration: A concept analysis.
PMID: 36403137
Nurs Forum · 2022
0.90
3
The (un-)Social Brain in Isolation.
PMID: 41307506
Physiol Res · 2025
0.80
4
Prediction of Human Pharmacokinetics and Clinical Effective Dose of SI-B001, an EGFR/HER3 Bi-specific Monoclonal Antibody.
PMID: 32565357
J Pharm Sci · 2020
0.70
5
Haematic silicon in drowning.
PMID: 26807996
J Forensic Leg Med · 2016
0.60