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Literature summary for 3.2.1.108 extracted from

  • Kuokkanen, M.; Kokkonen, J.; Enattah, N.S.; Ylisaukko-Oja, T.; Komu, H.; Varilo, T.; Peltonen, L.; Savilahti, E.; Jarvela, I.
    Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency (2006), Am. J. Hum. Genet., 78, 339-344.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.2.1.108

Application

Application Comment Organism
medicine findings facilitate genetic testing and enable genetic counseling for congential lactase deficiency, CLD Homo sapiens

Protein Variants

Protein Variants Comment Organism
G1363S congential lactase deficiency, CLD, mutation, DNA mutation c.4087G->A, genotype compound heterozygote for Y1390X Homo sapiens
Q268H congential lactase deficiency, CLD, mutation, DNA mutation c.804G->C, genotype compound heterozygote for Y1390X Homo sapiens
S1666fsX1722 congential lactase deficiency, CLD, mutation, DNA mutation c.4998_5001delTGAG, genotype compound heterozygote for Y1390X Homo sapiens
S218fsX224 congential lactase deficiency, CLD, mutation, DNA mutation c.653_654delCT, genotype compound heterozygote for Y1390X Homo sapiens
Y1390X congential lactase deficiency, CLD, mutation, DNA mutation c.4170T->A, genotype homozygote 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
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
gastrointestinal tract
-
 Homo sapiens
-
intestinal mucosa
-
 Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
0.002
-
 mutant S218fsX224, mean lactase activity Homo sapiens
0.0021
-
 mutant Y1390X, mean lactase activity Homo sapiens
0.003
-
 mutant G1363S, mean lactase activity Homo sapiens
0.005
-
 mutant Q268H, mean lactase activity Homo sapiens
0.005
-
 mutant S1666fsX1722, mean lactase activity 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