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14918 Gucy2d

14918

Gucy2d

guanylate cyclase 2d

protein-coding

Mus musculus

基因描述

Type Description
Definition guanylate cyclase 2d

研究结论

Date Results Publications
2018-02-03 10:46:00 the S248W mutation contributes to Leber congenital amaurosis 1 by hampering the expression, processing, and/or cellular transport of GUCY2D, rather than its enzymatic properties. 27881908
2017-05-27 11:51:00 This mouse model provides the first direct biochemical and physiological in vivo evidence for the Arg(838) substitutions in RetGC1 being the culprit behind the pathogenesis of the CORD6 congenital blindness. 27703005
2010-01-21 00:00:00 Genetic evidence for a Nrp2-Sema3f interaction as a determinant of the wiring of axons of gucy2d+ neurons into the unusual configuration of necklace glomeruli. 17942483
2010-01-21 00:00:00 Mg(2+) binding to GCAPs is critical for setting the actual dynamic range of RetGC regulation by GCAPs at physiological levels of free Ca(2+) 14993224

名称对应

Type IDs
Gene
UniProtKB-ID: GUC2D_MOUSE
UniprotKB: A0A0U1RPR8
UniParc: UPI00015530ED
EMBL: AC115069, AC111084
Ensembl: ENSMUSG00000074003
KO: mmu:14918
Nucleutide sequences
Ensembl_TRS: ENSMUST00000206435
Protein sequencees
Ensembl_PRO: ENSMUSP00000146093
RefSeq: NP_001124165.1
Others
UniRef100: UniRef100_A0A0U1RPR8
UniRef90: UniRef90_P51839
UniRef50: UniRef50_P51839
UniGene: Mm.389928
CCDS: CCDS85343.1

全选

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研究热度

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