VSX1

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Visual system homeobox 1
Identifiers
Symbols VSX1 ; CAASDS; KTCN; KTCN1; PPCD; PPD; RINX
External IDs OMIM605020 MGI1890816 HomoloGene8743 GeneCards: VSX1 Gene
RNA expression pattern
PBB GE VSX1 221124 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 30813 114889
Ensembl ENSG00000100987 ENSMUSG00000033080
UniProt Q9NZR4 Q91V10
RefSeq (mRNA) NM_001256271 NM_054068
RefSeq (protein) NP_001243200 NP_473409
Location (UCSC) Chr 20:
25.05 – 25.06 Mb
Chr 2:
150.68 – 150.69 Mb
PubMed search [1] [2]

Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.[1][2]

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.[3][4] Two transcript variants encoding different isoforms have been found for this gene.[2]

References[edit]

  1. ^ Semina EV, Mintz-Hittner HA, Murray JC (Apr 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. 
  2. ^ a b "Entrez Gene: VSX1 visual system homeobox 1 homolog, CHX10-like (zebrafish)". 
  3. ^ Bisceglia L, Ciaschetti M, De Bonis P, Campo PA, Pizzicoli C, Scala C, Grifa M, Ciavarella P, Delle Noci N, Vaira F, Macaluso C, Zelante L (January 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. 
  4. ^ 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. doi:10.1093/hmg/11.9.1029. PMID 11978762. 

Further reading[edit]