LCT
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.
Full Name
LCT
Function
LPH splits lactose in the small intestine.
Biological Process
Carbohydrate metabolic processIEA:InterPro
Cellular Location
Apical cell membrane
Involvement in disease
Congenital lactase deficiency (COLACD):
Autosomal recessive, rare and severe gastrointestinal disorder. It is characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. An almost total lack of LCT activity is found in jejunal biopsy material of patients with congenital lactase deficiency. Opposite to congenital lactase deficiency, also known as lactose intolerance, is the most common enzyme deficiency worldwide. It is caused by developmental down-regulation of lactase activity during childhood or early adulthood. The decline of lactase activity is a normal physiological phenomenon; however, the majority of Northern Europeans have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence). The down-regulation of lactase activity operates at the transcriptional level and it is associated with a noncoding variation in the MCM6 gene, located in the upstream vicinity of LCT.
Autosomal recessive, rare and severe gastrointestinal disorder. It is characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. An almost total lack of LCT activity is found in jejunal biopsy material of patients with congenital lactase deficiency. Opposite to congenital lactase deficiency, also known as lactose intolerance, is the most common enzyme deficiency worldwide. It is caused by developmental down-regulation of lactase activity during childhood or early adulthood. The decline of lactase activity is a normal physiological phenomenon; however, the majority of Northern Europeans have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence). The down-regulation of lactase activity operates at the transcriptional level and it is associated with a noncoding variation in the MCM6 gene, located in the upstream vicinity of LCT.
Topology
Extracellular: 20-1882
Helical: 1883-1901
Cytoplasmic: 1902-1927
Helical: 1883-1901
Cytoplasmic: 1902-1927
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Anti-LCT antibodies
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CompareTarget: LCT
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 3H6
Application*: WB, E
Target: LCT
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYJL-1325
Application*: WB, IH
Target: LCT
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: mlac9
Application*: IH, IP
Target: LCT
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: mlac6
Application*: IH, WB
Target: LCT
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Rabbit
Clone: mlac5
Application*: IP
Target: LCT
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: mlac4
Application*: IH, IP
Target: LCT
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: mlac10
Application*: WB
Target: LCT
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: mlac1
Application*: IP, R, WB, DB
Target: LCT
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYJL-1326
Application*: WB
Target: LCT
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBYJL-1324
Application*: IH
Target: LCT
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBYJL-1323
Application*: E, WB
Target: LCT
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Rabbit
Clone: CBYJL-1322
Application*: IP
Target: LCT
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYJL-1321
Application*: IH
Target: LCT
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBYJL-1319
Application*: IH
Target: LCT
Sensitivity: 0.0096 ng/mL
Detection Range: 0.02-4.5 ng/mL
Sample Type: Serum, Plasma, cell culture supernates
Specificity: Human
Assay Type: Sandwich
Reactivity: Human
Target: Lct
Sensitivity: 0.019 ng/mL
Detection Range: 0.05-20 ng/mL
Sample Type: Serum, Plasma, cell culture supernates
Specificity: Rat
Assay Type: Sandwich
Reactivity: Rat
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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