Recombinant Human RS1 protein (ab159464)
Key features and details
- Expression system: Wheat germ
- Tags: GST tag N-Terminus
- Suitable for: WB, ELISA
Description
-
Product name
Recombinant Human RS1 protein
See all RS1 proteins and peptides -
Expression system
Wheat germ -
Protein length
Full length protein -
Animal free
No -
Nature
Recombinant -
-
Species
Human -
Sequence
MSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGGPNALW SAGATSLDCIPECPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANK ARLNSQGFGCAWLSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTK YSVQYRTDERLNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIR LIPLGWHVRIAIRMELLECVSKCA -
Amino acids
1 to 224 -
Tags
GST tag N-Terminus
-
Specifications
Our Abpromise guarantee covers the use of ab159464 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
-
Applications
Western blot
ELISA
-
Form
Liquid -
Additional notes
-
Concentration information loading...
Preparation and Storage
-
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.31% Glutathione, 0.79% Tris HCl
General Info
-
Alternative names
- Retinoschisin
- RS1
- X-linked juvenile retinoschisis protein
- XLRS1_HUMAN
-
Function
May be active in cell adhesion processes during retinal development. -
Tissue specificity
Restricted to the retina (at protein level). At the mRNA level, detected only within the photoreceptor cell layer, most prominently within the inner segments of the photoreceptors. Undetectable in the inner plexiform layers and the inner nuclear layer. At the protein level, found in the inner segment of the photoreceptors, the inner nuclear layer, the inner plexiform layer and the ganglion cell layer. At the macula, expressed in both the outer and inner nuclear layers and in the inner plexiform layer (at protein level). -
Involvement in disease
Defects in RS1 are the cause of retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]. A vitreo-retinal dystrophy characterized by macular pathology and by splitting of the superficial layer of the retina. Macular changes are present in almost all cases. In the fundi, radially oriented intraretinal foveomacular cysts are seen in a spoke-wheel configuration, with the absence of foveal reflex in most cases. In addition, approximately half of cases have bilateral peripheral retinoschisis in the inferotemporal part of the retina. Aside from the typical fundus appearance, strabismus, nystagmus, axial hyperopia, defective color vision and foveal ectopy can be present. The most important complications are vitreous hemorrhage, retinal detachment, and neovascular glaucoma. -
Sequence similarities
Contains 1 F5/8 type C domain. -
Developmental stage
Up-regulated during the differentiation of a retinoblastoma cell line. -
Cellular localization
Secreted. - Information by UniProt
Protocols
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
Datasheets and documents
-
Datasheet download
References (0)
ab159464 has not yet been referenced specifically in any publications.