LCT Chromosome 2
Lactase
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What This Gene Does
The protein encoded by this gene belongs to the glycosyl hydrolase 1 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme is integral to the plasma membrane and has both phlorizin hydrolase activity and lactase activity. Mutations in this gene are associated with congenital lactase deficiency. Polymorphisms in this gene are associated with lactase persistence, in which intestinal lactase activity persists at childhood levels into adulthood. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Glycoside hydrolase family 1
Locus Type
gene with protein product
Location
2q21.3
Ensembl
ENSG00000115850
Associated Conditions (3)
Congenital lactase deficiency
LCT-related disorder
Inborn genetic diseases
Key Variants
RS138964370
Conflicting classifications of pathogenicity
Congenital lactase deficiency, Congenital lactase deficiency
Health Risk
RS139591272
Conflicting classifications of pathogenicity
Congenital lactase deficiency, Congenital lactase deficiency
Health Risk
RS140994860
Conflicting classifications of pathogenicity
Congenital lactase deficiency, LCT-related disorder, Congenital lactase deficiency
Health Risk
RS141075124
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143927262
Conflicting classifications of pathogenicity
Congenital lactase deficiency, Congenital lactase deficiency
Health Risk
RS143975097
Conflicting classifications of pathogenicity
Congenital lactase deficiency, Congenital lactase deficiency
Health Risk
RS145827881
Conflicting classifications of pathogenicity
Congenital lactase deficiency, Congenital lactase deficiency
Health Risk
RS148142216
Conflicting classifications of pathogenicity
Congenital lactase deficiency, LCT-related disorder, Congenital lactase deficiency
Health Risk
RS1483785677
Conflicting classifications of pathogenicity
Congenital lactase deficiency, Congenital lactase deficiency
Health Risk
RS148838160
Conflicting classifications of pathogenicity
Inborn genetic diseases, LCT-related disorder, Inborn genetic diseases
Health Risk
RS150024239
Conflicting classifications of pathogenicity
Congenital lactase deficiency, Congenital lactase deficiency
Health Risk
RS150722551
Conflicting classifications of pathogenicity
Congenital lactase deficiency, Congenital lactase deficiency
Health Risk
All Variants (69)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1291540757 | Health Risk | Pathogenic | — |
| RS1408682771 | Health Risk | Pathogenic | — |
| RS1417230303 | Health Risk | Pathogenic | — |
| RS2077596325 | Health Risk | Pathogenic | LCT-related disorder, LCT-related disorder |
| RS2105520379 | Health Risk | Pathogenic | — |
| RS2105531423 | Health Risk | Pathogenic | — |
| RS2105537748 | Health Risk | Pathogenic | — |
| RS2105562669 | Health Risk | Pathogenic | — |
| RS2467217491 | Health Risk | Pathogenic | — |
| RS2467218151 | Health Risk | Pathogenic | — |
| RS2467219547 | Health Risk | Pathogenic | — |
| RS2467247833 | Health Risk | Pathogenic | — |
| RS2467501358 | Health Risk | Pathogenic | — |
| RS386833832 | Health Risk | Pathogenic | Congenital lactase deficiency, Congenital lactase deficiency |
| RS753170188 | Health Risk | Pathogenic | — |
| RS770186794 | Health Risk | Pathogenic | — |
| RS386833836 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactase deficiency, Congenital lactase deficiency |
| RS749118441 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactase deficiency, Congenital lactase deficiency |
| RS962540601 | Health Risk | Pathogenic/Likely pathogenic | — |