Signal Transduction Antibodies 3

Anti-VSX1 Antibody (CAB9800)

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SKU:
CAB9800
Product Type:
Antibody
Applications:
WB
Reactivity:
Human
Host Species:
Rabbit
Isotype:
IgG
Research Area:
Signal Transduction

Description

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Antibody Name:Anti-VSX1 Antibody
Antibody SKU:CAB9800
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-170 of human VSX1 (NP_055403.2).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human
Positive Samples:A-549
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-170 of human VSX1 (NP_055403.2).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:MTGR DSLS DGRT SSRA LVPG GSPR GSRP RGFA ITDL LGLE AELP APAG PGQG SGCE GPAV APCP GPGL DGSS LARG ALPL GLGL LCGF GTQP PAAA RAPC LLLA DVPF LPPR GPEP AAPL APSR PPPA LGRQ KRSD SVST SDED SQSE DRND LKAS PTLG KRKK RRHR TV
Gene ID:30813
Uniprot:Q9NZR4
Cellular Location:Nucleus
Calculated MW:14kDa/22kDa/24kDa/29kDa/32kDa/38kDa/39kDa
Observed MW:40kDa
Synonyms:VSX1, CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD, RINX
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.
UniProt Protein Function:VSX1: 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. Defects in VSX1 are a cause of posterior polymorphous corneal dystrophy type 1 (PPCD1). PPCD1 is a slowly progressive hereditary disorder of the corneal endothelium that leads to a variable degree of visual impairment usually in adulthood. Defects in VSX1 are a cause of keratoconus type 1 (KTCN1). Keratoconus type 1 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. Defects in VSX1 are the cause of craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS). CAASDS is a disorder with extremely variable expressivity. Clinical features include wide interpupillary distance, abnormal corneal endothelium, unusual pinnae, partially to completely empty sella turcica, posterior fossa cyst, anterior encephalocele, and/or hydrocephalus. Belongs to the paired homeobox family. 8 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Cell development/differentiation; DNA-binding

Chromosomal Location of Human Ortholog: 20p11.21

Cellular Component: nucleus

Molecular Function:chromatin binding

Biological Process: neuron development; regulation of transcription, DNA-dependent

Disease: Corneal Dystrophy, Posterior Polymorphous, 1; Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome; Keratoconus 1

NCBI Summary: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]
UniProt Code:Q9NZR4
NCBI GenInfo Identifier:25009572
NCBI Gene ID:30813
NCBI Accession:Q9NZR4.2
UniProt Secondary Accession:Q9NZR4,Q0GM60, Q0GM61, Q0GM62, Q0GM63, Q0GM64, Q0GM65 Q5TF40, Q5TF41, Q9HCU3, B9EGJ4, D1MF28,
UniProt Related Accession:Q9NZR4
Molecular Weight:38kDa
NCBI Full Name:Visual system homeobox 1
NCBI Synonym Full Names:visual system homeobox 1
NCBI Official Symbol:VSX1  
NCBI Official Synonym Symbols:PPD; KTCN; PPCD; RINX; KTCN1; PPCD1; CAASDS  
NCBI Protein Information:visual system homeobox 1
UniProt Protein Name:Visual system homeobox 1
UniProt Synonym Protein Names:Homeodomain protein RINX; Retinal inner nuclear layer homeobox protein; Transcription factor VSX1
Protein Family:Visual system homeobox
UniProt Gene Name:VSX1  
Anti-VSX1 Polyclonal Antibody (CAB9800)Western blot analysis of extracts of A-549 cells, using VSX1 Antibody (CAB9800) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 90s.
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