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2916 GRM6

2916

GRM6

glutamate metabotropic receptor 6

protein-coding

Homo sapiens

基因描述

Type Description
Definition glutamate metabotropic receptor 6

研究结论

Date Results Publications
2020-06-20 12:56:00 Study reported a rare case of pseudodominantly inherited autosomal recessive congenital stationary night blindness in a family with three co-segregating deleterious variants (p.Arg621Ter, p.Gly51Val, and p.Gly464Arg) of GRM6. 31677249
2020-03-14 12:32:00 We identified a novel homozygous missense mutation in exon 8 of GRM6 (NM_000843.3). 31063016
2017-03-18 12:40:00 Our data suggested that genetic variants in GRM6 are associated with high myopia. The mechanism of GRM6 in the development of high myopia need to be further investigated. 27034204
2016-06-28 11:18:00 Two mutations in GRM6 gene have been identified in two consanguineous Pakistani families with congenital stationary night blindness. 26628857
2013-11-23 12:14:00 These data suggest differences in coupling of TRPM1 function to mGluR6 signaling explain different cellular responses to glutamate in the retina and the skin. 23452348

名称对应

Type IDs
Synonymous CSNB1B, GPRC1F, MGLUR6, mGlu6
Gene
UniProtKB-ID: GRM6_HUMAN
UniprotKB: O15303
UniParc: UPI000013C947
EMBL: AC104117, U82083
Ensembl: ENSG00000113262
KO: hsa:2916
Nucleutide sequences
EMBL-CDS: AAB82068.1
Ensembl_TRS: ENST00000650031, ENST00000517717, ENST00000231188
Protein sequencees
Ensembl_PRO: ENSP00000497110, ENSP00000430767, ENSP00000231188
RefSeq: NP_000834.2
Others
UniRef100: UniRef100_O15303
UniRef90: UniRef90_O15303
UniRef50: UniRef50_O15303
UniGene: Hs.248131
CCDS: CCDS4442.1

全选

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研究热度

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