LCTL (Lactase-Like) Gene
A comprehensive overview of the LCTL gene, including its genomic context, expression, and associated diseases.
Gene Information Card
| Symbol | LCTL |
|---|---|
| Full Name | lactase-like |
| Gene Type | protein-coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 197021 ncbi.nlm.nih.gov/gene/197021 |
| Ensembl ID | ENSG00000188536 |
| UniProt ID | Q6UWM7 |
| OMIM ID | 612037 |
| HGNC ID | 23019 |
| Aliases | LAC, LAC1, LCTL1 |
Description
LCTL (lactase-like) is a protein-coding gene located on chromosome 15q22.31. It encodes a protein that is similar to lactase (LCT) but its specific function is not fully characterized. The gene is expressed in various tissues and may be involved in carbohydrate metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lactose intolerance (potential modifier) | The LCTL protein may have residual lactase activity; variants could influence lactose digestion in individuals with LCT deficiency. | Inferred from sequence similarity and expression in small intestine (UniProt, NCBI). |
| Colorectal cancer | Altered LCTL expression has been observed in some colorectal cancer studies, but the mechanism is unclear. | Limited evidence from gene expression profiling (COSMIC, NCBI GEO). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Liver | 5.1 | Low |
| Testis | 4.7 | Low |
| Pancreas | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colorectal adenocarcinoma) | 15.2 | Enterocyte-like model; moderate expression |
| HepG2 (hepatocellular carcinoma) | 6.8 | Low expression |
| HEK 293 (embryonic kidney) | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.857C>T (p.Thr286Met) | missense | <0.01% (gnomAD) | Unknown; predicted benign by SIFT |
| c.1123G>A (p.Val375Ile) | missense | <0.01% (gnomAD) | Unknown; predicted tolerated |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC for LCTL.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • lactase activity (GO:0000016) | • hydrolyzing O-glycosyl compounds (GO:0004553) |
| • membrane (GO:0016020) |
Pathways
• Lactose degradation (Reactome: R-HSA-189085)
Protein Summary
The LCTL protein (UniProt Q6UWM7) is a 579-amino acid transmembrane protein predicted to have lactase-like hydrolase activity. It is localized to the membrane and may play a role in carbohydrate digestion, though its exact physiological substrate is unknown.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LCTL Knockout HEK293 Cell Line | EDJ-KQ11579 | Human | 197021 | Details Get a Quote |
| LCTL Knockout A-549 Cell Line | EDJ-KQ39914 | Human | 197021 | Details Get a Quote |
| LCTL Knockout HeLa Cell Line | EDJ-KQ39915 | Human | 197021 | Details Get a Quote |
| LCTL Knockout HCT 116 Cell Line | EDJ-KQ75859 | Human | 197021 | Details Get a Quote |
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