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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.
these data indicate that LZTFL1 modulates T cell activation and IL-5 levels. PMID: 26700766
LZTFL1 binds beta-catenin in the cytoplasm of the cell and inhibited its nuclear translocation PMID: 25005785
This special subtype of polydactyly in BBS patients is easily identified on clinical examination and prompts for priority sequencing of LZTFL1 (BBS17). PMID: 23692385
The absence of LZTFL1 leads to a BBS phenotype with enhanced developmental abnormalities associated with cellular Shh dysfunction. LZTFL1 is a novel BBS gene (BBS17). PMID: 22510444
Our findings suggest that LZTFL1 is an important regulator of BBSome ciliary trafficking and hedgehog signaling PMID: 22072986
LZTFL1 may inhibit tumorigenesis by stabilizing E-cadherin-mediated adherens junction formation and promoting epithelial cell differentiation. PMID: 20233871
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Involvement in disease
Bardet-Biedl syndrome 17 (BBS17)
Subcellular Location
Cytoplasm.
Protein Families
LZTFL1 family
Tissue Specificity
Expressed in prostate, ovary, stomach, pancreas, esophagus, breast, liver, bladder, kidney, thyroid, colon and lung (at protein level). Down-regulated in multiple primary tumors (at protein level). Detected in testis, heart, skeletal muscle, thymus, splee