SI mutant dimers

Stable Identifier
R-HSA-5659923
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
Literature References
PubMed ID Title Journal Year
8609217 Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment

Ouwendijk, J, Moolenaar, CE, Peters, WJ, Hollenberg, CP, Ginsel, LA, Fransen, JA, Naim, HY

J. Clin. Invest. 1996
11340066 Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder

Spodsberg, N, Jacob, R, Alfalah, M, Zimmer, KP, Naim, HY

J. Biol. Chem. 2001
16329100 Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption

Sander, P, Alfalah, M, Keiser, M, Korponay-Szabo, I, Kovács, JB, Leeb, T, Naim, HY

Hum. Mutat. 2006
Participants
Disease
Name Identifier Synonyms
intestinal disaccharidase deficiency 9868