Literature summary for 3.2.1.48 extracted from

Henstroem, M.; Diekmann, L.; Bonfiglio, F.; Hadizadeh, F.; Kuech, E.M.; von Koeckritz-Blickwede, M.; Thingholm, L.B.; Zheng, T.; Assadi, G.; Dierks, C.; Heine, M.; Philipp, U.; Distl, O.; Money, M.E.; Belheouane, M.; Heinsen, F.A.; Rafter, J.; Nardone, G.; Cuomo, R.; Usai-Satta, P.; Galeazzi, F.; Ne, N.e.r.
Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome (2018), Gut, 67, 263-270 .

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Protein Variants

Protein Variants	Comment	Organism
V15F	35% reduced enzymatic activity in vitro compared with wild-type enzyme. The mutation is detected in 6/7 sequenced familial cases of congenital sucrase-isomaltase deficiency	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P14410	-	-

Synonyms

Synonyms	Comment	Organism
sucrase-isomaltase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	congenital sucrase-isomaltase deficiency is a rare genetic form of disaccharide malabsorption characterised by diarrhoea, abdominal pain and bloating, which are features common to irritable bowel syndrome. Sucrase-isomaltase gene variants are tested for their potential relevance in irritable bowel syndrome. Sucrase-isomaltase gene variants coding for disaccharidases with defective or reduced enzymatic activity predispose to irritable bowel syndrome	Homo sapiens

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Release 2023.1 (January 2023)