VSX1

Visual system homeobox 1 homolog, CHX10-like (zebrafish)
Identifiers
Symbols	VSX1 ; PPCD; PPD; KTCN; RINX
External IDs	Template:OMIM5 Template:MGI HomoloGene: 8743
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE VSX1 221124 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Visual system homeobox 1 homolog, CHX10-like (zebrafish), also known as VSX1, is a human gene.

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 (PPCD) and keratoconus. Two transcript variants encoding different isoforms have been found for this gene.

Further reading

• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.CS1 maint: Multiple names: authors list (link)
• Semina EV, Mintz-Hittner HA, Murray JC (2000). "Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues". Genomics. 63 (2): 289–93. doi:10.1006/geno.1999.6093. PMID 10673340.CS1 maint: Multiple names: authors list (link)
• Hayashi T, Huang J, Deeb SS (2000). "RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina". Genomics. 67 (2): 128–39. doi:10.1006/geno.2000.6248. PMID 10903837.CS1 maint: Multiple names: authors list (link)
• Deloukas P, Matthews LH, Ashurst J; et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Héon E, Greenberg A, Kopp KK; et al. (2002). "VSX1: a gene for posterior polymorphous dystrophy and keratoconus". Hum. Mol. Genet. 11 (9): 1029–36. PMID 11978762.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mintz-Hittner HA, Semina EV, Frishman LJ; et al. (2004). "VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells". Ophthalmology. 111 (4): 828–36. doi:10.1016/j.ophtha.2003.07.006. PMID 15051220.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bisceglia L, Ciaschetti M, De Bonis P; et al. (2005). "VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation". Invest. Ophthalmol. Vis. Sci. 46 (1): 39–45. doi:10.1167/iovs.04-0533. PMID 15623752.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dorval KM, Bobechko BP, Ahmad KF, Bremner R (2005). "Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1". J. Biol. Chem. 280 (11): 10100–8. doi:10.1074/jbc.M412676200. PMID 15647262.CS1 maint: Multiple names: authors list (link)
• Valleix S, Nedelec B, Rigaudiere F; et al. (2006). "H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family". Invest. Ophthalmol. Vis. Sci. 47 (1): 48–54. doi:10.1167/iovs.05-0479. PMID 16384943.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Aldave AJ, Yellore VS, Salem AK; et al. (2006). "No VSX1 gene mutations associated with keratoconus". Invest. Ophthalmol. Vis. Sci. 47 (7): 2820–2. doi:10.1167/iovs.05-1530. PMID 16799019.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Barbaro V, Di Iorio E, Ferrari S; et al. (2007). "Expression of VSX1 in human corneal keratocytes during differentiation into myofibroblasts in response to wound healing". Invest. Ophthalmol. Vis. Sci. 47 (12): 5243–50. doi:10.1167/iovs.06-0185. PMID 17122109.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Liskova P, Ebenezer ND, Hysi PG; et al. (2007). "Molecular analysis of the VSX1 gene in familial keratoconus". Mol. Vis. 13: 1887–91. PMID 17960127.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)