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slc6a19 protein function  (Invitae Inc)

 
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    Invitae Inc slc6a19 protein function
    The 9 missense mutations do not co-localize with the plasma membrane marker. (A) B0AT1-WT shows plasma membrane localization. (B–J) Immuno-cytochemistry images of B0AT1 mutants <t>(SLC6A19)</t> localization; Immuno-cytochemistry images of B0AT1 with single nucleotide generated via site directed mutagenesis. These mutants show no normal localization, without co-localization with the PM marker GFP-hRas. Immunofluorescence images were captured with a Nikon eclipse i80 at magnification of ×100. Scale bar = 50 μm.
    Slc6a19 Protein Function, supplied by Invitae Inc, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/slc6a19+protein+function/function+protein+slc6a19/pmc12368292-244-13-0
    Average 86 stars, based on 1 article reviews
    slc6a19 protein function - by Bioz Stars, 2026-10
    86/100 stars

    Images

    1) Product Images from "Hartnup disease-causing SLC6A19 mutations lead to B0AT1 aberrant trafficking and ACE2 mis-localisation implicating the endoplasmic reticulum protein quality control"

    Article Title: Hartnup disease-causing SLC6A19 mutations lead to B0AT1 aberrant trafficking and ACE2 mis-localisation implicating the endoplasmic reticulum protein quality control

    Journal: Frontiers in Cell and Developmental Biology

    doi: 10.3389/fcell.2025.1589534

    The 9 missense mutations do not co-localize with the plasma membrane marker. (A) B0AT1-WT shows plasma membrane localization. (B–J) Immuno-cytochemistry images of B0AT1 mutants (SLC6A19) localization; Immuno-cytochemistry images of B0AT1 with single nucleotide generated via site directed mutagenesis. These mutants show no normal localization, without co-localization with the PM marker GFP-hRas. Immunofluorescence images were captured with a Nikon eclipse i80 at magnification of ×100. Scale bar = 50 μm.
    Figure Legend Snippet: The 9 missense mutations do not co-localize with the plasma membrane marker. (A) B0AT1-WT shows plasma membrane localization. (B–J) Immuno-cytochemistry images of B0AT1 mutants (SLC6A19) localization; Immuno-cytochemistry images of B0AT1 with single nucleotide generated via site directed mutagenesis. These mutants show no normal localization, without co-localization with the PM marker GFP-hRas. Immunofluorescence images were captured with a Nikon eclipse i80 at magnification of ×100. Scale bar = 50 μm.

    Techniques Used: Clinical Proteomics, Membrane, Marker, Immunocytochemistry, Generated, Mutagenesis, Immunofluorescence

    The 9 missense mutations co-localize with the ER marker. (A) B0AT1-WT shows plasma membrane localization with no ER retention. (B–J) Immuno-cytochemistry images of B0AT1 mutants (SLC6A19) generated via site-directed mutagenesis. The mutants show ER retention, confirmed by co-localization with Calnexin (an ER marker), while H-Ras serves as the plasma membrane marker. Immunofluorescence images were captured with a Nikon eclipse i80 at magnification of ×100. Scale bar = 50 μm.
    Figure Legend Snippet: The 9 missense mutations co-localize with the ER marker. (A) B0AT1-WT shows plasma membrane localization with no ER retention. (B–J) Immuno-cytochemistry images of B0AT1 mutants (SLC6A19) generated via site-directed mutagenesis. The mutants show ER retention, confirmed by co-localization with Calnexin (an ER marker), while H-Ras serves as the plasma membrane marker. Immunofluorescence images were captured with a Nikon eclipse i80 at magnification of ×100. Scale bar = 50 μm.

    Techniques Used: Marker, Clinical Proteomics, Membrane, Immunocytochemistry, Generated, Mutagenesis, Immunofluorescence

    ER-retained B0AT1 variants and ACE2 co-transfection with GFP-hRas in Hela cells. (A) Co-localization of WT-ACE2 (Blue) with the plasma membrane marker GFP-hRas (Green). (B–J) Co-localization of ER-retained B0AT1 (SLC6A19) mutants (Red) and WT-ACE2 (Blue) Immuno-cytochemistry show the of B0AT1 mutants on ACE2 localization. Immunofluorescence images were captured with a Nikon eclipse i80 at magnification of ×100. Scale bar = 50 μm.
    Figure Legend Snippet: ER-retained B0AT1 variants and ACE2 co-transfection with GFP-hRas in Hela cells. (A) Co-localization of WT-ACE2 (Blue) with the plasma membrane marker GFP-hRas (Green). (B–J) Co-localization of ER-retained B0AT1 (SLC6A19) mutants (Red) and WT-ACE2 (Blue) Immuno-cytochemistry show the of B0AT1 mutants on ACE2 localization. Immunofluorescence images were captured with a Nikon eclipse i80 at magnification of ×100. Scale bar = 50 μm.

    Techniques Used: Cotransfection, Clinical Proteomics, Membrane, Marker, Immunocytochemistry, Immunofluorescence

    Related Articles

    Variant Assay:

    Article Title: Hartnup disease-causing SLC6A19 mutations lead to B0AT1 aberrant trafficking and ACE2 mis-localisation implicating the endoplasmic reticulum protein quality control
    Article Snippet: .. Invitae Labs also reports that this missense variant is not expected to disrupt SLC6A19 protein function, PolyPhen predicts it to be “benign (0.24)”. ..



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    slc6a19 protein function  (Invitae Inc)
    86
    Invitae Inc slc6a19 protein function
    The 9 missense mutations do not co-localize with the plasma membrane marker. (A) B0AT1-WT shows plasma membrane localization. (B–J) Immuno-cytochemistry images of B0AT1 mutants <t>(SLC6A19)</t> localization; Immuno-cytochemistry images of B0AT1 with single nucleotide generated via site directed mutagenesis. These mutants show no normal localization, without co-localization with the PM marker GFP-hRas. Immunofluorescence images were captured with a Nikon eclipse i80 at magnification of ×100. Scale bar = 50 μm.
    Slc6a19 Protein Function, supplied by Invitae Inc, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/slc6a19+protein+function/function+protein+slc6a19/pmc12368292-244-13-0
    Average 86 stars, based on 1 article reviews
    slc6a19 protein function - by Bioz Stars, 2026-10
    86/100 stars
    		  Buy from Supplier

    Image Search Results


    The 9 missense mutations do not co-localize with the plasma membrane marker. (A) B0AT1-WT shows plasma membrane localization. (B–J) Immuno-cytochemistry images of B0AT1 mutants (SLC6A19) localization; Immuno-cytochemistry images of B0AT1 with single nucleotide generated via site directed mutagenesis. These mutants show no normal localization, without co-localization with the PM marker GFP-hRas. Immunofluorescence images were captured with a Nikon eclipse i80 at magnification of ×100. Scale bar = 50 μm.

    Journal: Frontiers in Cell and Developmental Biology

    Article Title: Hartnup disease-causing SLC6A19 mutations lead to B0AT1 aberrant trafficking and ACE2 mis-localisation implicating the endoplasmic reticulum protein quality control

    doi: 10.3389/fcell.2025.1589534

    Figure Lengend Snippet: The 9 missense mutations do not co-localize with the plasma membrane marker. (A) B0AT1-WT shows plasma membrane localization. (B–J) Immuno-cytochemistry images of B0AT1 mutants (SLC6A19) localization; Immuno-cytochemistry images of B0AT1 with single nucleotide generated via site directed mutagenesis. These mutants show no normal localization, without co-localization with the PM marker GFP-hRas. Immunofluorescence images were captured with a Nikon eclipse i80 at magnification of ×100. Scale bar = 50 μm.

    Article Snippet: Invitae Labs also reports that this missense variant is not expected to disrupt SLC6A19 protein function, PolyPhen predicts it to be “benign (0.24)”.

    Techniques: Clinical Proteomics, Membrane, Marker, Immunocytochemistry, Generated, Mutagenesis, Immunofluorescence

    The 9 missense mutations co-localize with the ER marker. (A) B0AT1-WT shows plasma membrane localization with no ER retention. (B–J) Immuno-cytochemistry images of B0AT1 mutants (SLC6A19) generated via site-directed mutagenesis. The mutants show ER retention, confirmed by co-localization with Calnexin (an ER marker), while H-Ras serves as the plasma membrane marker. Immunofluorescence images were captured with a Nikon eclipse i80 at magnification of ×100. Scale bar = 50 μm.

    Journal: Frontiers in Cell and Developmental Biology

    Article Title: Hartnup disease-causing SLC6A19 mutations lead to B0AT1 aberrant trafficking and ACE2 mis-localisation implicating the endoplasmic reticulum protein quality control

    doi: 10.3389/fcell.2025.1589534

    Figure Lengend Snippet: The 9 missense mutations co-localize with the ER marker. (A) B0AT1-WT shows plasma membrane localization with no ER retention. (B–J) Immuno-cytochemistry images of B0AT1 mutants (SLC6A19) generated via site-directed mutagenesis. The mutants show ER retention, confirmed by co-localization with Calnexin (an ER marker), while H-Ras serves as the plasma membrane marker. Immunofluorescence images were captured with a Nikon eclipse i80 at magnification of ×100. Scale bar = 50 μm.

    Article Snippet: Invitae Labs also reports that this missense variant is not expected to disrupt SLC6A19 protein function, PolyPhen predicts it to be “benign (0.24)”.

    Techniques: Marker, Clinical Proteomics, Membrane, Immunocytochemistry, Generated, Mutagenesis, Immunofluorescence

    ER-retained B0AT1 variants and ACE2 co-transfection with GFP-hRas in Hela cells. (A) Co-localization of WT-ACE2 (Blue) with the plasma membrane marker GFP-hRas (Green). (B–J) Co-localization of ER-retained B0AT1 (SLC6A19) mutants (Red) and WT-ACE2 (Blue) Immuno-cytochemistry show the of B0AT1 mutants on ACE2 localization. Immunofluorescence images were captured with a Nikon eclipse i80 at magnification of ×100. Scale bar = 50 μm.

    Journal: Frontiers in Cell and Developmental Biology

    Article Title: Hartnup disease-causing SLC6A19 mutations lead to B0AT1 aberrant trafficking and ACE2 mis-localisation implicating the endoplasmic reticulum protein quality control

    doi: 10.3389/fcell.2025.1589534

    Figure Lengend Snippet: ER-retained B0AT1 variants and ACE2 co-transfection with GFP-hRas in Hela cells. (A) Co-localization of WT-ACE2 (Blue) with the plasma membrane marker GFP-hRas (Green). (B–J) Co-localization of ER-retained B0AT1 (SLC6A19) mutants (Red) and WT-ACE2 (Blue) Immuno-cytochemistry show the of B0AT1 mutants on ACE2 localization. Immunofluorescence images were captured with a Nikon eclipse i80 at magnification of ×100. Scale bar = 50 μm.

    Article Snippet: Invitae Labs also reports that this missense variant is not expected to disrupt SLC6A19 protein function, PolyPhen predicts it to be “benign (0.24)”.

    Techniques: Cotransfection, Clinical Proteomics, Membrane, Marker, Immunocytochemistry, Immunofluorescence