" /> SI wt Allele - CISMeF





Preferred Label : SI wt Allele;

NCIt synonyms : Sucrase-Isomaltase (Alpha-Glucosidase) Gene; Sucrase-Isomaltase wt Allele; Oligo-1,6-Glucosidase Gene; Oligosaccharide Alpha-1,6-Glucosidase Gene; Alpha-Methylglucosidase Gene; Alpha-Glucosidase Gene;

NCIt definition : Human SI wild-type allele is located in the vicinity of 3q26.1 and is approximately 179 kb in length. This allele, which encodes sucrase-isomaltase, intestinal protein, is involved in carbohydrate digestion. Loss of function mutations in the gene are associated with congenital sucrase-isomaltase deficiency.;

NCIt note : There is a high degree of homology between the portions of the gene encoding isomaltase and sucrase (41% of amino acid identity); thus, this gene may have evolved by partial gene duplication. (UniProt);

NCI Metathesaurus CUI : CL1798936;

GenBank Accession Number : X63597;

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12/05/2024


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