Application | Comment | Organism |
---|---|---|
medicine | findings facilitate genetic testing and enable genetic counseling for congential lactase deficiency, CLD | Homo sapiens |
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 | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
lactose + H2O | Homo sapiens | - |
D-galactose + D-glucose | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
gastrointestinal tract | - |
Homo sapiens | - |
intestinal mucosa | - |
Homo sapiens | - |
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 | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
lactose + H2O | - |
Homo sapiens | D-galactose + D-glucose | - |
? |
Synonyms | Comment | Organism |
---|---|---|
lactase | - |
Homo sapiens |