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Literature summary for 3.2.1.108 extracted from

  • Behrendt, M.; Keiser, M.; Hoch, M.; Naim, H.Y.
    Impaired trafficking and subcellular localization of a mutant lactase associated with congenital lactase deficiency (2009), Gastroenterology, 136, 2295-2303.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
expression in Cos-1 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
G1363S misfolded, rest in endoplasmatic reticulum, congenital lactase deficiency, temperature sensitive Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
brush border
-
Homo sapiens 5903
-
endoplasmic reticulum misfolded mutation G1363S Homo sapiens 5783
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
small intestine
-
Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
20% enzyme activity of mutant G1363S after incubation at 20°C for 22h Homo sapiens
additional information
-
enzymatic activity of mutant G1363S below detection line Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
lactose + H2O 37°C, 2h Homo sapiens D-galactose + D-glucose
-
?
phlorizin 37°C, 2h Homo sapiens phloretin + D-glucose
-
?

Subunits

Subunits Comment Organism
homodimer 2* 145000 Homo sapiens

Synonyms

Synonyms Comment Organism
lactase
-
Homo sapiens
lactase phlorizin hydrolase
-
Homo sapiens
LPH
-
Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
20
-
restoring of enzymatic activity of misfolded mutation G1363S by expression at 20°C Homo sapiens