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Literature summary for 3.2.1.108 extracted from

  • Imtiaz , I.F.; Savilahti , S.E.; Sarnesto , S.A.; Trabzuni , T.D.; Al-Kahtani , A.K.; Kagevi , K.I.; Rashed M. , R.M.; Meyer B. , M.B.; Jarvela , J.I.
    The T/G 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population (2007), J. Med. Genet., 44, e89-e89.
    View publication on PubMedView publication on EuropePMC
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Activating Compound

Activating Compound Comment Organism Structure
additional information determination of disaccharidase activities in intestinal biopsy samples show a highly significant correlation between lactase activity and the T/G-13915 genotype Homo sapiens

Application

Application Comment Organism
medicine the T/G-13915 variant is the founder mutation of lactase persistence, the result has implications for genetic testing of adult-type hypolactasia Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
lactose + H2O Homo sapiens
-
 D-galactose + D-glucose
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
lactose + H2O
-
 Homo sapiens D-galactose + D-glucose
-
 ?

Synonyms

Synonyms Comment Organism
lactase
-
 Homo sapiens