Price range: $268.00 through $328.00
Background:
The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008],
| Size | 50μL/100μL |
| Target | VSX1 |
| Reactivity | Human, Mouse |
| Applications | WB, ELISA |
| MW(Calculated) | |
| MW(Observed) | 40kD |
| Host Species | Rabbit |
| Isotype | IgG |
| Conjugate/Modification | Unmodified |
| Recommended Dilution Ratio | WB 1:500-2000; ELISA 1:5000-20000 |
| Formulation | Liquid in PBS containing 50% glycerol,0.5% BSA and 0.02% sodium azide. |
| Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. |
| Storage | -15°C to -25°C/1 year(Do not lower than -25°C) |
| Concentration | 1 mg/ml |
| Clonality | Polyclonal |
| Clone Number | |
| Immunogen | Synthesized peptide derived from part region of human protein |
| Specificity | VSX1 Polyclonal Antibody detects endogenous levels of protein. |
| Gene Name | VSX1 RINX |
| Protein Name | Visual system homeobox 1 (Homeodomain protein RINX) (Retinal inner nuclear layer homeobox protein) (Transcription factor VSX1) |
| Other Name | |
| Species | Human |
| Gene ID | 30813 |
| Uniprot | Q9NZR4, |
| Species.1 | Mouse |
| Gene ID.1 | |
| Uniprot.1 | Q91V10 |
| Species.2 | |
| Gene ID.2 | |
| Uniprot.2 | |
| Cellular Localization | Nucleus . |
| Tissue Expression | In the adult eye, expressed in lens, iris, ciliary body, choroid, optical nerve head and, most strongly, in retina, but not expressed in sclera and cornea. According to PubMed:11978762, expressed in adult retina but not in lens and cornea. Within adult retina, found exclusively in the inner nuclear layer. Isoform 1, isoform 2, isoform 3 and isoform 4 expressed in adult retina, but not in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. Not expressed in thymus and spleen. Expressed in embryonic craniofacial tissue. Expressed in fetal (week 14) retina. Strongly expressed in neonatal retina, weakly in neonatal lens, choroid and cornea (day 1, 4; month 9). |
| Signaling_pathway | |
| Research Areas | |
| Function | Alternative products:Additional isoforms seem to exist,Disease:Defects in VSX1 are a cause of keratoconus [MIM:148300]. It is a frequent corneal dystrophy with an incidence that varies from 50 to 230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and autosomal recessive transmission.,Disease:Defects in VSX1 are a cause of posterior polymorphous corneal dystrophy (PPCD) [MIM:122000]. PPCD is a slowly progressive hereditary disorder of the corneal endothelium that leads to a variable degree of visual impairment usually in adulthood. PPCD is usually inherited as an autosomal dominant trait.,Function:Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster. May regulate the activity of the LCR and the cone opsin genes at earlier stages of development.,similarity:Belongs to the paired homeobox family.,similarity:Contains 1 CVC domain.,similarity:Contains 1 homeobox DNA-binding domain.,tissue specificity:Expressed in the embryonic craniofacial and exclusively in the retinal inner nuclear layer of the adult., |
