Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6476
MIM: 609845
HGNC: 10856
Ensembl: ENSG00000090402
Variants:
dbSNP: 6476
ClinVar: 6476
TCGA: ENSG00000090402
COSMIC: SI
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000090402 | ENST00000264382 | P14410 |
| ENSG00000090402 | ENST00000476593 | F8WF21 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36878682 | 2024 | Sucrase-isomaltase genotype and response to a starch-reduced and sucrose-reduced diet in IBS-D patients. | 4 |
| 36878682 | 2024 | Sucrase-isomaltase genotype and response to a starch-reduced and sucrose-reduced diet in IBS-D patients. | 4 |
| 37349966 | 2023 | Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates. | 0 |
| 37349966 | 2023 | Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates. | 0 |
| 34186061 | 2021 | Rare Hypomorphic Sucrase Isomaltase Variants in Relation to Irritable Bowel Syndrome Risk in UK Biobank. | 9 |
| 34242650 | 2021 | The glucose-regulated protein GRP94 interacts avidly in the endoplasmic reticulum with sucrase-isomaltase isoforms that are associated with congenital sucrase-isomaltase deficiency. | 2 |
| 34186061 | 2021 | Rare Hypomorphic Sucrase Isomaltase Variants in Relation to Irritable Bowel Syndrome Risk in UK Biobank. | 9 |
| 34242650 | 2021 | The glucose-regulated protein GRP94 interacts avidly in the endoplasmic reticulum with sucrase-isomaltase isoforms that are associated with congenital sucrase-isomaltase deficiency. | 2 |
| 29408290 | 2018 | Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients. | 32 |
| 29408290 | 2018 | Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients. | 32 |
| 27749612 | 2017 | Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization. | 4 |
| 28062276 | 2017 | Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients. | 13 |
| 27749612 | 2017 | Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization. | 4 |
| 28062276 | 2017 | Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients. | 13 |
| 25452324 | 2015 | Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation. | 16 |
Citation
Dessen P
SI (sucrase-isomaltase)
Atlas Genet Cytogenet Oncol Haematol. 2014-03-01
Online version: http://atlasgeneticsoncology.org/gene/53724/si-(sucrase-isomaltase)
