基因名称(Gene Name)
VSX1 RINX
蛋白名称
Visual system homeobox 1 (Homeodomain protein RINX) (Retinal inner nuclear layer homeobox protein) (Transcription factor VSX1)
免疫原
Synthesized peptide derived from part region of human protein
特异性
VSX1 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
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],
功能
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 activi
