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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 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.
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