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GPR179 encodes a member of the glutamate receptor subfamily of G protein-coupled receptors. Zusätzlich bieten wir Ihnen und viele weitere Produktgruppen zu diesem Protein an.
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In this study, a novel compound heterozygous mutation, c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3 gene of a proband. No mutations were identified in the CABP4 (zeige CABP4 Antikörper) or GPR179 gene.
We found 1 mutation in GPR179 in congenital stationary night blindness.
Additional screening with Sanger sequencing of 40 patients identified three other cCSNB patients harboring additional allelic mutations in GPR179.
A no b-wave (nob (zeige NYX Antikörper)) electroretinography phenotype arose spontaneously in a colony of C3H mice and was named nob5. A mutation was identified in the Gpr179 gene in homozygous nob5 mice.
This study showed that GPR179 is required for high sensitivity of the mGluR6 (zeige GRM6 Antikörper) signaling cascade in depolarizing bipolar cells in mice.
For most of the mutations identified so far, loss of the GPR179 protein function seems to be the underlying pathogenic mechanism leading to this form of cCSNB.
GPR179 forms physical complexes with the main components of the metabotropic cascade, recruiting mGluR6, TRPM1, and the Regulators of G-Protein Signaling Proteins.
The loss of GPR179 in a mouse model of night blindness prevented targeting of RGS (zeige PITX2 Antikörper) to the postsynaptic compartment of bipolar neurons in the retina, illuminating the role of GPR179 in night vision.
This gene encodes a member of the glutamate receptor subfamily of G protein-coupled receptors. The encoded protein has an EGF-like calcium binding domain and a seven transmembrane domain in the N-terminal region of the protein. Mutations in this gene are associated with congenital stationary night blindness type 1E.
, probable G-protein coupled receptor 158-like 1
, probable G-protein coupled receptor 179
, GPR158-like 1 receptor
, G protein-coupled receptor 179