产品名称
GUC1A Rabbit Polyclonal Antibody
基因名称
GUCA1A C6orf131 GCAP GCAP1 GUCA1
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/2978
Human Swissprot No.
P43080
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P43080/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/14913
Mouse Swissprot No.
P43081
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/P43081
免疫原
Synthesized peptide derived from human GUC1A AA range: 63-113
特异性
This antibody detects endogenous levels of GUC1A at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes an enzyme that plays a role in the recovery of retinal photoreceptors from photobleaching. This enzyme promotes the activity of retinal guanylyl cyclase-1 (GC1) at low calcium concentrations and inhibits GC1 at high calcium concentrations. Mutations in this gene can cause cone dystrophy 3 and code-rod dystrophy 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016],
组织表达
In the retina, it is expressed in rod and cone photoreceptors.
细胞定位
Membrane; Lipid-anchor . Photoreceptor inner segment . Cell projection, cilium, photoreceptor outer segment . Present at higher levels in cone than in rod outer segments (PubMed:9620085). Subcellular location is not affected by light or dark conditions. .
功能
disease:Defects in GUCA1A are the cause of cone dystrophy type 3 (COD3) [MIM:602093]. COD3 is an autosomal dominant cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies, in which some loss of peripheral vision also occurs.,function:Stimulates guanylyl cyclase 1 (GC1) when free calcium ions concentration is low and inhibits GC1 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure.,miscellaneous:Binds three calcium ions.,online information:Retina International's Scientific Newsletter,similarity:Contains 4 EF-hand domains.,tissue specificity:Retina; cone outer and inner segments, in particular, in disk membrane regions, and to a lesser extent rod inner and outer segments.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
