Rabbit anti-Human VSX1 Polyclonal Antibody | anti-VSX1 antibody

VSX1 Polyclonal Antibody

Cat. Num. AAA2562326

• Gene Names: VSX1; PPD; KTCN; PPCD; RINX; KTCN1; PPCD1; CAASDS
• Reactivity: Human
• Applications: Immunohistochemistry, ELISA
• Purity: Antigen Affinity Purification
• Synonyms: VSX1; Polyclonal Antibody; VSX1 Polyclonal Antibody; CAASDS; Homeodomain protein RINX; KTCN; KTCN1; Posterior polymorphous corneal dystrophy; PPCD; PPD; Retinal inner nuclear layer homeobox protein; RINX; Transcription factor VSX1; Visual system homeobox 1; Visual system homeobox 1 homolog; CHX10 like; CHX10 like (zebrafish); anti-VSX1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Antigen Affinity Purification
• Form/Format: PBS with 0.05% NaN3 and 40% Glycerol, pH7.4
• Concentration: 0.4mg/mL (varies by lot)
• Sequence Length: 236

• Applicable Applications for anti-VSX1 antibody: Immunohistochemistry (IHC), ELISA (EIA)
• Application Notes: IHC: 1:25-1:100; ELISA: 1:5000-1:10000
• Immunogen: Fusion protein of human VSX1
• Conjugation: Unconjugated
• Preparation and Storage: Store at -20 degree C. Avoid freeze/thaw cycles.

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded Human lung cancer tissue using VSX1 Polyclonal Antibody at dilution of 1:30(×200))

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded Human gastric cancer tissue using VSX1 Polyclonal Antibody at dilution of 1:30(×200))

Related Product Information for anti-VSX1 antibody

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.

Product Categories/Family for anti-VSX1 antibody

Epigenetics and Nuclear Signaling; Developmental Biology; Neuroscience

NCBI and Uniprot Product Information

• NCBI GI #: 372266239
• NCBI GeneID: 30813
• NCBI Accession #: NP_001243200.1; BC126228
• NCBI GenBank Nucleotide #: NP_001243200.1
• UniProt Accession #: Q9NZR4
• NCBI Official Full Name: visual system homeobox 1 isoform c
• NCBI Official 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
• Protein Family: Visual system homeobox
• UniProt Gene Name: VSX1
• UniProt Synonym Gene Names: RINX
• UniProt Entry Name: VSX1_HUMAN

NCBI Description

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 Description

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.

Protein type: Cell development/differentiation; DNA-binding

Chromosomal Location of Human Ortholog: 20p11.21

Cellular Component: nucleus

Molecular Function: sequence-specific DNA binding; transcription factor activity

Biological Process: transcription, DNA-dependent; visual perception; regulation of transcription, DNA-dependent; response to stimulus; neuron maturation; retinal bipolar neuron differentiation

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