VSX1

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VSX1
Identifiers
Aliases VSX1, CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD, RINX, visual system homeobox 1
External IDs MGI: 1890816 HomoloGene: 8743 GeneCards: VSX1
RNA expression pattern
PBB GE VSX1 221124 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001256271
NM_001256272
NM_014588
NM_199425

NM_054068

RefSeq (protein)

NP_001243200
NP_001243201
NP_055403
NP_955457

NP_473409.1
NP_473409

Location (UCSC) Chr 20: 25.07 – 25.08 Mb Chr 2: 150.68 – 150.69 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.[3][4]

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.[5][6] Two transcript variants encoding different isoforms have been found for this gene.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ a b "Entrez Gene: VSX1 visual system homeobox 1 homolog, CHX10-like (zebrafish)". 
  5. ^ 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. 
  6. ^ 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]