LZTFL1
LZTFL1 is an ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. LZTFL1 may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. Alternative splicing of this gene results in multiple transcript variants.
Full Name
LZTFL1
Function
Regulates ciliary localization of the BBSome complex. Together with the BBSome complex, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May play a role in neurite outgrowth. May have tumor suppressor function.
Biological Process
Flagellated sperm motilityIEA:Ensembl
Negative regulation of protein localization to ciliary membraneManual Assertion Based On ExperimentIMP:GO_Central
Negative regulation of protein localization to ciliumManual Assertion Based On ExperimentIMP:GO_Central
SpermatogenesisIEA:Ensembl
Negative regulation of protein localization to ciliary membraneManual Assertion Based On ExperimentIMP:GO_Central
Negative regulation of protein localization to ciliumManual Assertion Based On ExperimentIMP:GO_Central
SpermatogenesisIEA:Ensembl
Cellular Location
Cytoplasm
Involvement in disease
Bardet-Biedl syndrome 17 (BBS17):
A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
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Anti-LZTFL1 antibodies
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Target: LZTFL1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 1B1
Application*: WB, E
Target: LZTFL1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYCL-612
Application*: E, WB
Target: LZTFL1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBYCL-611
Application*: IP, WB, E
Target: LZTFL1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CBYJL-2288
Application*: WB, IP, IF, P, E
Target: LZTFL1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 7F6
Application*: E, IF, IH, WB
Target: LZTFL1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBYJL-2287
Application*: E, IP, WB
Target: LZTFL1
Specificity: Human
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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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